Y103H (p.Tyr103His) variant of CHM (P24386)
Y103H (p.Tyr103His) in CHM (P24386) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
Y103H (p.Tyr103His) variant details
- p.Tyr103His
- rs777754238
- ClinGen CA10465614
- ClinVar RCV002917470
- ExAC rs777754238
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- REVEL 0.61
- MetaLR 0.67
- MetaSVM 0.41
- CADD 23.70
- PolyPhen-2 0.97
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.9e-05)
- Structural context available