K44N (p.Lys44Asn) variant of HADHB (P55084)
K44N (p.Lys44Asn) in HADHB (P55084) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
K44N (p.Lys44Asn) variant details
- p.Lys44Asn
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.53
- CADD 22.80
- PolyPhen-2 0.20
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available