K70R (p.Lys70Arg) variant of HMBS (Porphobilinogen deaminase)
K70R (p.Lys70Arg) in HMBS (Porphobilinogen deaminase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes structural context.
K70R (p.Lys70Arg) variant details
- p.Lys70Arg
- rs2134859281
- ClinGen CA382889480
- ClinVar RCV002028065
- Ensembl rs2134859281
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- ESM-1b 1.00
- AlphaMissense 0.12
- MetaLR 0.98
- MetaSVM 1.04
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available