R19T (p.Arg19Thr) variant of HMBS (Porphobilinogen deaminase)
R19T (p.Arg19Thr) 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 0.45 / 1. The record also includes population frequency data and structural context.
R19T (p.Arg19Thr) variant details
- p.Arg19Thr
- rs2497421693
- ClinGen CA382888096
- ClinVar RCV003039815
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.43
- ESM-1b 0.48
- AlphaMissense 0.19
- CADD 22.30
- PolyPhen-2 0.14
- SIFT 0.05
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.2)
- Structural context available