N75K (p.Asn75Lys) variant of PRPH2 (Peripherin-2)
N75K (p.Asn75Lys) in PRPH2 (Peripherin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
N75K (p.Asn75Lys) variant details
- p.Asn75Lys
- gnomAD 6-42722110-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.29
- CADD 21.90
- PolyPhen-2 0.66
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available