A63P (p.Ala63Pro) variant of ETFB (P38117)
A63P (p.Ala63Pro) in ETFB (P38117) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
A63P (p.Ala63Pro) variant details
- p.Ala63Pro
- ESP rs142966954
- ExAC rs142966954
- TOPMed rs142966954
- gnomAD rs142966954
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- REVEL 0.88
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available