G3S (p.Gly3Ser) variant of HMBS (Porphobilinogen deaminase)
G3S (p.Gly3Ser) in HMBS (Porphobilinogen deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
G3S (p.Gly3Ser) variant details
- p.Gly3Ser
- ExAC rs782528817
- gnomAD rs782528817
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 24.00
- PolyPhen-2 0.00
- SIFT 0.06
- Most common in the HGDP:RUSSIAN population (allele frequency 0.08)
- Structural context available