V20L (p.Val20Leu) variant of HMBS (Porphobilinogen deaminase)
V20L (p.Val20Leu) in HMBS (Porphobilinogen deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
V20L (p.Val20Leu) variant details
- p.Val20Leu
- gnomAD rs1399090942
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- REVEL 0.60
- ESM-1b 0.00
- AlphaMissense 0.22
- CADD 23.80
- PolyPhen-2 0.52
- SIFT 0.14
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available