A34V (p.Ala34Val) variant of CYP21A2 (Steroid 21-hydroxylase)
A34V (p.Ala34Val) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
A34V (p.Ala34Val) variant details
- p.Ala34Val
- gnomAD rs1216885889
- Missense
- Variant Prioritization Score for Impact Estimate 0.146
- CADD 0.59
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available