A40V (p.Ala40Val) variant of HMBS (Porphobilinogen deaminase)
A40V (p.Ala40Val) 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 and structural context.
A40V (p.Ala40Val) variant details
- p.Ala40Val
- ESP rs146023979
- TOPMed rs146023979
- gnomAD rs146023979
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- REVEL 0.48
- ESM-1b 1.00
- AlphaMissense 0.17
- CADD 23.20
- PolyPhen-2 0.12
- SIFT 0.07
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available