M67T (p.Met67Thr) variant of PRPH2 (Peripherin-2)
M67T (p.Met67Thr) in PRPH2 (Peripherin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
M67T (p.Met67Thr) variant details
- p.Met67Thr
- gnomAD 6-42722135-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.25
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.15
- Population evidence available
- Structural context available
- Literature evidence available