P35L (p.Pro35Leu) variant of CYP21A2 (Steroid 21-hydroxylase)
P35L (p.Pro35Leu) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data.
P35L (p.Pro35Leu) variant details
- p.Pro35Leu
- 1000Genomes rs549647209
- ExAC rs549647209
- TOPMed rs549647209
- gnomAD rs549647209
- Uncertain significance
- 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- CADD 23.40
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.0005)