Q18R (p.Gln18Arg) variant of PRPH2 (Peripherin-2)
Q18R (p.Gln18Arg) in PRPH2 (Peripherin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
Q18R (p.Gln18Arg) variant details
- p.Gln18Arg
- ExAC rs758336829
- TOPMed rs758336829
- gnomAD rs758336829
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.24
- CADD 23.80
- PolyPhen-2 0.34
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available