V128M (p.Val128Met) variant of REEP1 (Q9H902)
V128M (p.Val128Met) in REEP1 (Q9H902) 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.
V128M (p.Val128Met) variant details
- p.Val128Met
- ExAC rs763762442
- gnomAD rs763762442
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- REVEL 0.36
- CADD 22.40
- PolyPhen-2 0.88
- SIFT 0.10
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available