R8S (p.Arg8Ser) variant of REEP1 (Q9H902)
R8S (p.Arg8Ser) in REEP1 (Q9H902) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
R8S (p.Arg8Ser) variant details
- p.Arg8Ser
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- CADD 19.50
- PolyPhen-2 0.20
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available