P24A (p.Pro24Ala) variant of ETFB (P38117)
P24A (p.Pro24Ala) in ETFB (P38117) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
P24A (p.Pro24Ala) variant details
- p.Pro24Ala
- TOPMed rs1241346242
- gnomAD rs1241346242
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.40
- CADD 23.00
- PolyPhen-2 0.02
- SIFT 0.54
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available