Y25N (p.Tyr25Asn) variant of ETFDH (Q16134)
Y25N (p.Tyr25Asn) 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.
Y25N (p.Tyr25Asn) variant details
- p.Tyr25Asn
- gnomAD 4-158680505-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.20
- CADD 13.50
- PolyPhen-2 0.01
- SIFT 0.26
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available