K56N (p.Lys56Asn) variant of ETFB (P38117)
K56N (p.Lys56Asn) in ETFB (P38117) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
K56N (p.Lys56Asn) variant details
- p.Lys56Asn
- cosmic curated COSV58535
- ExAC rs764083482
- gnomAD rs764083482
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.34
- CADD 20.40
- PolyPhen-2 0.18
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- Structural context available