M56V (p.Met56Val) variant of HMBS (Porphobilinogen deaminase)
M56V (p.Met56Val) 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 0.84 / 1. The record also includes population frequency data and structural context.
M56V (p.Met56Val) variant details
- p.Met56Val
- rs761130805
- ClinGen CA6313955
- NCI-TCGA Cosmic COSV5382
- cosmic curated COSV53829
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.839
- ESM-1b 1.00
- AlphaMissense 0.31
- MetaLR 0.98
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available