K23N (p.Lys23Asn) variant of ETFB (P38117)
K23N (p.Lys23Asn) in ETFB (P38117) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
K23N (p.Lys23Asn) variant details
- p.Lys23Asn
- TOPMed rs371201213
- gnomAD rs371201213
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.36
- CADD 22.70
- PolyPhen-2 0.16
- SIFT 0.07
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available