D143G (p.Asp143Gly) variant of CHM (P24386)
D143G (p.Asp143Gly) in CHM (P24386) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
D143G (p.Asp143Gly) variant details
- p.Asp143Gly
- gnomAD rs1208126173
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.02
- MetaLR 0.10
- MetaSVM -1.01
- CADD 14.80
- PolyPhen-2 0.00
- SIFT 0.44
- Most common in the South Asian population (allele frequency 1.8e-05)
- Structural context available