S37A (p.Ser37Ala) variant of ETFDH (Q16134)
S37A (p.Ser37Ala) in ETFDH (Q16134) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
S37A (p.Ser37Ala) variant details
- p.Ser37Ala
- gnomAD 4-158680541-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.37
- CADD 16.50
- PolyPhen-2 0.00
- SIFT 0.55
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available