S10N (p.Ser10Asn) variant of NR2E3 (Q9Y5X4)
S10N (p.Ser10Asn) in NR2E3 (Q9Y5X4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and published literature.
S10N (p.Ser10Asn) variant details
- p.Ser10Asn
- gnomAD 15-71810772-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- CADD 14.70
- PolyPhen-2 0.08
- SIFT 0.04
- Population evidence available
- Literature evidence available