R4I (p.Arg4Ile) variant of NR2E3 (Q9Y5X4)
R4I (p.Arg4Ile) in NR2E3 (Q9Y5X4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
R4I (p.Arg4Ile) variant details
- p.Arg4Ile
- gnomAD 15-71810754-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- CADD 17.10
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Literature evidence available