K15Q (p.Lys15Gln) variant of PRPH2 (Peripherin-2)
K15Q (p.Lys15Gln) in PRPH2 (Peripherin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
K15Q (p.Lys15Gln) variant details
- p.Lys15Gln
- gnomAD rs1319529235
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- REVEL 0.44
- CADD 25.30
- PolyPhen-2 0.54
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available