A14S (p.Ala14Ser) variant of CYP21A2 (Steroid 21-hydroxylase)
A14S (p.Ala14Ser) 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 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
A14S (p.Ala14Ser) variant details
- p.Ala14Ser
- rs764636694
- ClinGen CA3732263
- ClinVar RCV001293783
- 1000Genomes rs764636694
- Uncertain significance
- 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- CADD 21.90
- PolyPhen-2 0.26
- SIFT 0.01
- ClinVar: Uncertain significance (21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- Structural context available
- Cited in: 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia. (PMID 20301350)
- Cited in: Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice… (PMID 30272171)