D12N (p.Asp12Asn) variant of RP2 (Protein XRP2)
D12N (p.Asp12Asn) in RP2 (Protein XRP2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
D12N (p.Asp12Asn) variant details
- p.Asp12Asn
- gnomAD X-46837134-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.19
- CADD 17.80
- PolyPhen-2 0.00
- SIFT 0.45
- Population evidence available
- Structural context available
- Literature evidence available