S7T (p.Ser7Thr) variant of REEP1 (Q9H902)
S7T (p.Ser7Thr) in REEP1 (Q9H902) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
S7T (p.Ser7Thr) variant details
- p.Ser7Thr
- Ensembl rs1681105904
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- CADD 22.00
- PolyPhen-2 0.71
- SIFT 0.01
- Population evidence available
- Structural context available