P24T (p.Pro24Thr) variant of ETFB (P38117)
P24T (p.Pro24Thr) in ETFB (P38117) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
P24T (p.Pro24Thr) variant details
- p.Pro24Thr
- TOPMed rs1241346242
- gnomAD rs1241346242
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.53
- CADD 23.60
- PolyPhen-2 0.49
- SIFT 0.04
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available