A20S (p.Ala20Ser) variant of NR2E3 (Q9Y5X4)
A20S (p.Ala20Ser) 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.
A20S (p.Ala20Ser) variant details
- p.Ala20Ser
- gnomAD 15-71810801-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.132
- CADD 0.58
- PolyPhen-2 0.00
- SIFT 0.51
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- Literature evidence available