P31L (p.Pro31Leu) variant of CYP21A2 (Steroid 21-hydroxylase)
P31L (p.Pro31Leu) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
P31L (p.Pro31Leu) variant details
- p.Pro31Leu
- rs9378251
- 1000Genomes rs9378251
- gnomAD rs9378251
- ClinGen CA341183
- Pathogenic/Likely pathogenic
- not provided; 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- AlphaMissense 0.50
- MetaLR 0.53
- MetaSVM 0.07
- CADD 19.40
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Pathogenic/Likely pathogenic (not provided; 21-Hydroxylase-Deficient Congenital Adrenal Hyperp)
- EBI: Pathogenic (in AH3)
- UniProt: Pathogenic (in AH3)
- Most common in the HGDP:DAUR population (allele frequency 0.056)
- Structural context available
- Cited in: Mutation analysis in patients with congenital adrenal hyperplasia in the Spanish population: identification of putative… (PMID 10364682)
- Cited in: Steroid 21-hydroxylase deficiency: mutational spectrum in Denmark, three novel mutations, and in vitro expression… (PMID 10408778)