G3V (p.Gly3Val) variant of HMBS (Porphobilinogen deaminase)
G3V (p.Gly3Val) in HMBS (Porphobilinogen deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
G3V (p.Gly3Val) variant details
- p.Gly3Val
- ExAC rs782577135
- gnomAD rs782577135
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.33
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 23.60
- PolyPhen-2 0.03
- SIFT 0.01
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.15)
- Structural context available