K19R (p.Lys19Arg) variant of ETFB (P38117)
K19R (p.Lys19Arg) in ETFB (P38117) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
K19R (p.Lys19Arg) variant details
- p.Lys19Arg
- ExAC rs767751467
- gnomAD rs767751467
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- REVEL 0.55
- CADD 35.00
- PolyPhen-2 0.60
- SIFT 0.04
- Most common in the HGDP:TUSCAN population (allele frequency 0.062)
- Structural context available