Q18H (p.Gln18His) variant of PRPH2 (Peripherin-2)
Q18H (p.Gln18His) in PRPH2 (Peripherin-2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
Q18H (p.Gln18His) variant details
- p.Gln18His
- rs752955075
- NCI-TCGA Cosmic COSV5783
- ExAC rs752955075
- gnomAD rs752955075
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.27
- CADD 22.40
- PolyPhen-2 0.97
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 0.00012)
- Structural context available