V23L (p.Val23Leu) variant of HMBS (Porphobilinogen deaminase)
V23L (p.Val23Leu) in HMBS (Porphobilinogen deaminase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
V23L (p.Val23Leu) variant details
- p.Val23Leu
- gnomAD 11-119088288-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.704
- REVEL 0.71
- ESM-1b 1.00
- AlphaMissense 0.82
- CADD 25.20
- PolyPhen-2 0.60
- SIFT 0.02
- Most common in the HGDP:PATHAN population (allele frequency 0.083)
- Structural context available
- Literature evidence available