K11R (p.Lys11Arg) variant of ETFB (P38117)
K11R (p.Lys11Arg) 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.
K11R (p.Lys11Arg) variant details
- p.Lys11Arg
- cosmic curated COSV52467
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- REVEL 0.85
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available