V35I (p.Val35Ile) variant of RP2 (Protein XRP2)
V35I (p.Val35Ile) in RP2 (Protein XRP2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
V35I (p.Val35Ile) variant details
- p.Val35Ile
- ExAC rs782634392
- gnomAD rs782634392
- Missense
- Variant Prioritization Score for Impact Estimate 0.4
- REVEL 0.32
- CADD 15.80
- PolyPhen-2 0.00
- SIFT 0.47
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available