H88P (p.His88Pro) variant of MCCC1 (Q96RQ3)
H88P (p.His88Pro) in MCCC1 (Q96RQ3) 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 0.83 / 1. The record also includes population frequency data and structural context.
H88P (p.His88Pro) variant details
- p.His88Pro
- TOPMed rs1352224093
- gnomAD rs1352224093
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.829
- REVEL 0.96
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available