K53N (p.Lys53Asn) variant of ETFB (P38117)
K53N (p.Lys53Asn) in ETFB (P38117) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
K53N (p.Lys53Asn) variant details
- p.Lys53Asn
- ESP rs368212620
- ExAC rs368212620
- TOPMed rs368212620
- gnomAD rs368212620
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- REVEL 0.76
- CADD 26.80
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available