T49I (p.Thr49Ile) variant of REEP1 (Q9H902)
T49I (p.Thr49Ile) 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 0.69 / 1. The record also includes population frequency data and structural context.
T49I (p.Thr49Ile) variant details
- p.Thr49Ile
- NCI-TCGA Cosmic COSV9938
- cosmic curated COSV99383
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- REVEL 0.65
- CADD 22.60
- PolyPhen-2 0.95
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available