R12K (p.Arg12Lys) variant of ETFB (P38117)
R12K (p.Arg12Lys) in ETFB (P38117) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
R12K (p.Arg12Lys) variant details
- p.Arg12Lys
- cosmic curated COSV52467
- gnomAD rs1480479389
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- REVEL 0.76
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available