A17S (p.Ala17Ser) variant of NR2E3 (Q9Y5X4)
A17S (p.Ala17Ser) in NR2E3 (Q9Y5X4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
A17S (p.Ala17Ser) variant details
- p.Ala17Ser
- gnomAD rs1361799339
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- CADD 8.58
- PolyPhen-2 0.01
- SIFT 0.80
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available