Q105H (p.Gln105His) variant of MCCC1 (Q96RQ3)
Q105H (p.Gln105His) in MCCC1 (Q96RQ3) is a missense change. Clinical records from ClinVar 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.
Q105H (p.Gln105His) variant details
- p.Gln105His
- Ensembl rs1717920438
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.557
- REVEL 0.66
- CADD 24.00
- PolyPhen-2 0.47
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available