S10I (p.Ser10Ile) variant of NR2E3 (Q9Y5X4)
S10I (p.Ser10Ile) 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 and published literature.
S10I (p.Ser10Ile) variant details
- p.Ser10Ile
- gnomAD 15-71810772-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- CADD 13.50
- PolyPhen-2 0.45
- SIFT 0.09
- Most common in the African/African-American population (allele frequency 0.00031)
- Literature evidence available