T58S (p.Thr58Ser) variant of HMBS (Porphobilinogen deaminase)
T58S (p.Thr58Ser) in HMBS (Porphobilinogen deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
T58S (p.Thr58Ser) variant details
- p.Thr58Ser
- gnomAD rs1946167675
- Missense
- Variant Prioritization Score for Impact Estimate 0.815
- REVEL 0.78
- ESM-1b 1.00
- AlphaMissense 0.88
- CADD 28.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:PIMA population (allele frequency 0.091)
- Structural context available