A28P (p.Ala28Pro) variant of CASP9 (Caspase-9)
A28P (p.Ala28Pro) in CASP9 (Caspase-9) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
A28P (p.Ala28Pro) variant details
- p.Ala28Pro
- ExAC rs759311957
- TOPMed rs759311957
- gnomAD rs759311957
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- REVEL 0.10
- CADD 16.80
- PolyPhen-2 0.03
- SIFT 0.44
- EBI: Variant of uncertain significance (in dbSNP:rs1052571)
- UniProt: Uncertain significance (in dbSNP:rs1052571)
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available