A34V (p.Ala34Val) variant of CYP27A1 (Q02318)
A34V (p.Ala34Val) in CYP27A1 (Q02318) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A34V (p.Ala34Val) variant details
- p.Ala34Val
- gnomAD 2-218782283-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.20
- CADD 17.80
- PolyPhen-2 0.13
- SIFT 0.12
- Most common in the Latino/Admixed American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available