N75T (p.Asn75Thr) variant of PRPH2 (Peripherin-2)
N75T (p.Asn75Thr) in PRPH2 (Peripherin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
N75T (p.Asn75Thr) variant details
- p.Asn75Thr
- gnomAD 6-42722111-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.436
- REVEL 0.36
- CADD 25.90
- PolyPhen-2 0.79
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available