S76L (p.Ser76Leu) variant of PRPH2 (Peripherin-2)
S76L (p.Ser76Leu) in PRPH2 (Peripherin-2) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
S76L (p.Ser76Leu) variant details
- p.Ser76Leu
- rs1203908646
- TOPMed rs1203908646
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.17
- CADD 20.70
- PolyPhen-2 0.01
- SIFT 0.67
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available