Y25C (p.Tyr25Cys) variant of ETFDH (Q16134)
Y25C (p.Tyr25Cys) in ETFDH (Q16134) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
Y25C (p.Tyr25Cys) variant details
- p.Tyr25Cys
- gnomAD rs1258925935
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.29
- CADD 13.60
- PolyPhen-2 0.00
- SIFT 0.20
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available