K62R (p.Lys62Arg) variant of HMBS (Porphobilinogen deaminase)
K62R (p.Lys62Arg) in HMBS (Porphobilinogen deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes structural context.
K62R (p.Lys62Arg) variant details
- p.Lys62Arg
- Ensembl rs2134859062
- Missense
- Variant Prioritization Score for Impact Estimate 0.681
- REVEL 0.76
- ESM-1b 0.56
- AlphaMissense 0.07
- Structural context available