R124W (p.Arg124Trp) variant of REEP1 (Q9H902)
R124W (p.Arg124Trp) in REEP1 (Q9H902) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
R124W (p.Arg124Trp) variant details
- p.Arg124Trp
- cosmic curated COSV51259
- gnomAD rs1296046852
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- REVEL 0.58
- CADD 29.60
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available