S2Y (p.Ser2Tyr) variant of HMBS (Porphobilinogen deaminase)
S2Y (p.Ser2Tyr) in HMBS (Porphobilinogen deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
S2Y (p.Ser2Tyr) variant details
- p.Ser2Tyr
- gnomAD 11-119085038-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- REVEL 0.52
- ESM-1b 0.90
- AlphaMissense 0.14
- CADD 24.70
- PolyPhen-2 0.42
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available