P88T (p.Pro88Thr) variant of PRPH2 (Peripherin-2)
P88T (p.Pro88Thr) in PRPH2 (Peripherin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
P88T (p.Pro88Thr) variant details
- p.Pro88Thr
- gnomAD 6-42722073-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.08
- CADD 12.20
- PolyPhen-2 0.14
- SIFT 0.92
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available