Y49H (p.Tyr49His) variant of ETFDH (Q16134)
Y49H (p.Tyr49His) in ETFDH (Q16134) 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, published literature, and structural context.
Y49H (p.Tyr49His) variant details
- p.Tyr49His
- gnomAD 4-158680577-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.26
- CADD 14.70
- PolyPhen-2 0.00
- SIFT 0.56
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available