D143Y (p.Asp143Tyr) variant of CHM (P24386)
D143Y (p.Asp143Tyr) in CHM (P24386) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
D143Y (p.Asp143Tyr) variant details
- p.Asp143Tyr
- rs771806748
- ClinGen CA10465577
- ClinVar RCV001462337
- ExAC rs771806748
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.10
- MetaLR 0.15
- MetaSVM -0.94
- CADD 14.60
- PolyPhen-2 0.25
- SIFT 0.04
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00031)
- Structural context available