S37G (p.Ser37Gly) variant of HMBS (Porphobilinogen deaminase)
S37G (p.Ser37Gly) in HMBS (Porphobilinogen deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
S37G (p.Ser37Gly) variant details
- p.Ser37Gly
- gnomAD 11-119088656-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- REVEL 0.70
- ESM-1b 1.00
- AlphaMissense 0.13
- CADD 22.80
- PolyPhen-2 0.40
- SIFT 0.30
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available