P94H (p.Pro94His) variant of REEP1 (Q9H902)
P94H (p.Pro94His) in REEP1 (Q9H902) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
P94H (p.Pro94His) variant details
- p.Pro94His
- gnomAD rs1170051082
- Missense
- Variant Prioritization Score for Impact Estimate 0.877
- REVEL 0.95
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available