M81V (p.Met81Val) variant of ETFB (P38117)
M81V (p.Met81Val) in ETFB (P38117) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
M81V (p.Met81Val) variant details
- p.Met81Val
- rs748963409
- ClinGen CA9610813
- cosmic curated COSV58537
- ClinVar RCV001806469
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.739
- REVEL 0.82
- CADD 24.40
- PolyPhen-2 0.69
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00041)
- Structural context available