V20M (p.Val20Met) variant of HMBS (Porphobilinogen deaminase)
V20M (p.Val20Met) in HMBS (Porphobilinogen deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
V20M (p.Val20Met) variant details
- p.Val20Met
- gnomAD 11-119088279-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.707
- REVEL 0.76
- ESM-1b 0.28
- AlphaMissense 0.20
- CADD 26.70
- PolyPhen-2 0.94
- SIFT 0.03
- Most common in the HGDP:PIMA population (allele frequency 0.091)
- Structural context available
- Literature evidence available