R41P (p.Arg41Pro) variant of ETFDH (Q16134)
R41P (p.Arg41Pro) in ETFDH (Q16134) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
R41P (p.Arg41Pro) variant details
- p.Arg41Pro
- gnomAD 4-158680554-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.62
- CADD 22.20
- PolyPhen-2 0.13
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available