L11V (p.Leu11Val) variant of ETFDH (Q16134)
L11V (p.Leu11Val) in ETFDH (Q16134) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
L11V (p.Leu11Val) variant details
- p.Leu11Val
- Ensembl rs1773598121
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.23
- CADD 19.20
- PolyPhen-2 0.00
- SIFT 0.39
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available