Y43H (p.Tyr43His) variant of CHM (P24386)
Y43H (p.Tyr43His) 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 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
Y43H (p.Tyr43His) variant details
- p.Tyr43His
- rs780259893
- ClinGen CA10465637
- ClinVar RCV001240903
- ClinVar RCV001277506
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.772
- REVEL 0.88
- MetaLR 0.89
- MetaSVM 0.98
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.5e-06)
- Structural context available
- Cited in: Choroideremia. (PMID 20301511)