H38Y (p.His38Tyr) variant of CASP9 (Caspase-9)
H38Y (p.His38Tyr) in CASP9 (Caspase-9) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
H38Y (p.His38Tyr) variant details
- p.His38Tyr
- ExAC rs752299579
- TOPMed rs752299579
- gnomAD rs752299579
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.03
- CADD 23.60
- PolyPhen-2 0.46
- SIFT 0.02
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available