V13A (p.Val13Ala) variant of NR2E3 (Q9Y5X4)
V13A (p.Val13Ala) in NR2E3 (Q9Y5X4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
V13A (p.Val13Ala) variant details
- p.Val13Ala
- gnomAD 15-71810781-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- CADD 14.70
- PolyPhen-2 0.00
- SIFT 0.36
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Literature evidence available