R10W (p.Arg10Trp) variant of MCCC2 (Q9HCC0)
R10W (p.Arg10Trp) in MCCC2 (Q9HCC0) is a missense change. Clinical records from ClinVar 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 0.31 / 1. The record also includes population frequency data and structural context.
R10W (p.Arg10Trp) variant details
- p.Arg10Trp
- ExAC rs746669042
- TOPMed rs746669042
- gnomAD rs746669042
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.32
- CADD 13.70
- PolyPhen-2 0.00
- SIFT 0.32
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available