T41P (p.Thr41Pro) variant of HMBS (Porphobilinogen deaminase)
T41P (p.Thr41Pro) in HMBS (Porphobilinogen deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
T41P (p.Thr41Pro) variant details
- p.Thr41Pro
- gnomAD rs1333436762
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.53
- ESM-1b 1.00
- AlphaMissense 0.47
- CADD 15.80
- PolyPhen-2 0.20
- SIFT 0.20
- Most common in the HGDP:TU population (allele frequency 0.1)
- Structural context available