A63T (p.Ala63Thr) variant of ETFB (P38117)
A63T (p.Ala63Thr) in ETFB (P38117) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
A63T (p.Ala63Thr) variant details
- p.Ala63Thr
- cosmic curated COSV10439
- ESP rs142966954
- ExAC rs142966954
- TOPMed rs142966954
- Missense
- Variant Prioritization Score for Impact Estimate 0.682
- REVEL 0.68
- CADD 27.10
- PolyPhen-2 0.96
- SIFT 0.01
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available