T10K (p.Thr10Lys) variant of HMBS (Porphobilinogen deaminase)
T10K (p.Thr10Lys) in HMBS (Porphobilinogen deaminase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
T10K (p.Thr10Lys) variant details
- p.Thr10Lys
- ExAC rs782647894
- TOPMed rs782647894
- gnomAD rs782647894
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.334
- REVEL 0.38
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 20.20
- PolyPhen-2 0.02
- SIFT 0.18
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available