Q10H (p.Gln10His) variant of PRPH2 (Peripherin-2)
Q10H (p.Gln10His) in PRPH2 (Peripherin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
Q10H (p.Gln10His) variant details
- p.Gln10His
- TOPMed rs1487386106
- gnomAD rs1487386106
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.07
- CADD 17.10
- PolyPhen-2 0.01
- SIFT 0.24
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available