K41E (p.Lys41Glu) variant of HADHB (P55084)
K41E (p.Lys41Glu) 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 0.42 / 1. The record also includes population frequency data and structural context.
K41E (p.Lys41Glu) variant details
- p.Lys41Glu
- NCI-TCGA Cosmic COSV1005
- cosmic curated COSV10050
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.43
- CADD 20.20
- PolyPhen-2 0.02
- SIFT 0.23
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available