K26N (p.Lys26Asn) variant of NR2E3 (Q9Y5X4)
K26N (p.Lys26Asn) in NR2E3 (Q9Y5X4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
K26N (p.Lys26Asn) variant details
- p.Lys26Asn
- gnomAD 15-71810821-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- CADD 20.80
- PolyPhen-2 0.03
- SIFT 0.04
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available