S10A (p.Ser10Ala) variant of NR2E3 (Q9Y5X4)
S10A (p.Ser10Ala) in NR2E3 (Q9Y5X4) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and published literature.
S10A (p.Ser10Ala) variant details
- p.Ser10Ala
- gnomAD 15-71810770-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.778
- CADD 21.70
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Literature evidence available