P100L (p.Pro100Leu) variant of PRPH2 (Peripherin-2)
P100L (p.Pro100Leu) in PRPH2 (Peripherin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Retinal dystrophy; PRPH2-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
P100L (p.Pro100Leu) variant details
- p.Pro100Leu
- rs768400169
- ClinGen CA3808639
- NCI-TCGA Cosmic COSV5783
- ClinVar RCV001530220
- Uncertain significance
- Retinal dystrophy; PRPH2-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.31
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.04
- ClinVar: Uncertain significance (Retinal dystrophy; PRPH2-related disorder)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available