I71T (p.Ile71Thr) variant of HMBS (Porphobilinogen deaminase)
I71T (p.Ile71Thr) in HMBS (Porphobilinogen deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
I71T (p.Ile71Thr) variant details
- p.Ile71Thr
- 1000Genomes rs149606894
- ExAC rs149606894
- gnomAD rs149606894
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.85
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available