A11V (p.Ala11Val) variant of HMBS (Porphobilinogen deaminase)
A11V (p.Ala11Val) 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 0.27 / 1. The record also includes structural context.
A11V (p.Ala11Val) variant details
- p.Ala11Val
- rs2497397284
- ClinGen CA382985835
- ClinVar RCV003690529
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- ESM-1b 0.00
- AlphaMissense 0.09
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available