T10M (p.Thr10Met) variant of HMBS (Porphobilinogen deaminase)
T10M (p.Thr10Met) in HMBS (Porphobilinogen deaminase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
T10M (p.Thr10Met) variant details
- p.Thr10Met
- rs782647894
- ClinGen CA6313831
- ClinVar RCV002967423
- ExAC rs782647894
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.35
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 22.60
- PolyPhen-2 0.05
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available