A14G (p.Ala14Gly) variant of CYP21A2 (Steroid 21-hydroxylase)
A14G (p.Ala14Gly) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
A14G (p.Ala14Gly) variant details
- p.Ala14Gly
- gnomAD 6-32038463-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- CADD 22.40
- PolyPhen-2 0.40
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 2e-05)
- Structural context available
- Literature evidence available