P28S (p.Pro28Ser) variant of MCCC1 (Q96RQ3)
P28S (p.Pro28Ser) in MCCC1 (Q96RQ3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
P28S (p.Pro28Ser) variant details
- p.Pro28Ser
- ExAC rs774954839
- TOPMed rs774954839
- gnomAD rs774954839
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.40
- CADD 15.70
- PolyPhen-2 0.00
- SIFT 0.17
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available