D39N (p.Asp39Asn) variant of RP2 (Protein XRP2)
D39N (p.Asp39Asn) in RP2 (Protein XRP2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
D39N (p.Asp39Asn) variant details
- p.Asp39Asn
- gnomAD X-46853488-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.52
- CADD 22.80
- PolyPhen-2 0.23
- SIFT 0.09
- Population evidence available
- Structural context available
- Literature evidence available