A15V (p.Ala15Val) variant of NR2E3 (Q9Y5X4)
A15V (p.Ala15Val) in NR2E3 (Q9Y5X4) 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.
A15V (p.Ala15Val) variant details
- p.Ala15Val
- gnomAD 15-71810787-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- CADD 21.20
- PolyPhen-2 0.01
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Literature evidence available