W2R (p.Trp2Arg) variant of MCCC2 (Q9HCC0)
W2R (p.Trp2Arg) in MCCC2 (Q9HCC0) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
W2R (p.Trp2Arg) variant details
- p.Trp2Arg
- gnomAD 5-71587429-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.52
- CADD 23.40
- PolyPhen-2 0.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available