T95M (p.Thr95Met) variant of REEP1 (Q9H902)
T95M (p.Thr95Met) in REEP1 (Q9H902) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
T95M (p.Thr95Met) variant details
- p.Thr95Met
- cosmic curated COSV51256
- Ensembl rs1553461480
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- REVEL 0.57
- CADD 23.10
- PolyPhen-2 1.00
- SIFT 0.11
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available