P93S (p.Pro93Ser) variant of ETFB (P38117)
P93S (p.Pro93Ser) in ETFB (P38117) 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.
P93S (p.Pro93Ser) variant details
- p.Pro93Ser
- gnomAD 19-51353230-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.15
- CADD 12.20
- PolyPhen-2 0.01
- SIFT 0.71
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available