V27M (p.Val27Met) variant of REEP1 (Q9H902)
V27M (p.Val27Met) in REEP1 (Q9H902) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
V27M (p.Val27Met) variant details
- p.Val27Met
- ExAC rs775638750
- gnomAD rs775638750
- Missense
- Variant Prioritization Score for Impact Estimate 0.825
- REVEL 0.85
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available