R31S (p.Arg31Ser) variant of NR2E3 (Q9Y5X4)
R31S (p.Arg31Ser) in NR2E3 (Q9Y5X4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
R31S (p.Arg31Ser) variant details
- p.Arg31Ser
- gnomAD 15-71810836-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.13
- CADD 9.80
- PolyPhen-2 0.00
- SIFT 0.20
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Literature evidence available