P106L (p.Pro106Leu) variant of CYP21A2 (Steroid 21-hydroxylase)
P106L (p.Pro106Leu) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as no classification for the single variant in the context of in AH3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
P106L (p.Pro106Leu) variant details
- p.Pro106Leu
- rs550051210
- 1000Genomes rs550051210
- ExAC rs550051210
- TOPMed rs550051210
- no classification for the single variant
- in AH3
- Missense
- Variant Prioritization Score for Impact Estimate 0.134
- CADD 7.59
- ClinVar: no classification for the single variant (in AH3)
- EBI: Pathogenic (in AH3)
- UniProt: Pathogenic (in AH3)
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Cited in: Pro-453 to Ser mutation in CYP21 is associated with nonclassic steroid 21-hydroxylase deficiency. (PMID 1406699)
- Cited in: Steroid 21-hydroxylase deficiency: three additional mutated alleles and establishment of phenotype-genotype… (PMID 1496017)