S76W (p.Ser76Trp) variant of PRPH2 (Peripherin-2)
S76W (p.Ser76Trp) in PRPH2 (Peripherin-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
S76W (p.Ser76Trp) variant details
- p.Ser76Trp
- gnomAD 6-42722104-CAGCG-
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.82
- CADD 32.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available