A69V (p.Ala69Val) variant of ETFB (P38117)
A69V (p.Ala69Val) in ETFB (P38117) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
A69V (p.Ala69Val) variant details
- p.Ala69Val
- gnomAD rs1396815248
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.26
- CADD 20.20
- PolyPhen-2 0.00
- SIFT 0.08
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available