W2C (p.Trp2Cys) variant of MCCC2 (Q9HCC0)
W2C (p.Trp2Cys) in MCCC2 (Q9HCC0) is a missense change. Clinical records from ClinVar, EBI, 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 0.66 / 1. The record also includes population frequency data and structural context.
W2C (p.Trp2Cys) variant details
- p.Trp2Cys
- rs727504007
- ClinGen CA234243
- ClinVar RCV000153470
- ExAC rs727504007
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- REVEL 0.60
- CADD 24.10
- PolyPhen-2 0.36
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00013)
- Structural context available