K5E (p.Lys5Glu) variant of PRPH2 (Peripherin-2)
K5E (p.Lys5Glu) in PRPH2 (Peripherin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
K5E (p.Lys5Glu) variant details
- p.Lys5Glu
- gnomAD rs1264201049
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.11
- CADD 24.80
- PolyPhen-2 0.95
- SIFT 0.02
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available