W32R (p.Trp32Arg) variant of MCCC1 (Q96RQ3)
W32R (p.Trp32Arg) in MCCC1 (Q96RQ3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
W32R (p.Trp32Arg) variant details
- p.Trp32Arg
- ExAC rs761132865
- gnomAD rs761132865
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- REVEL 0.59
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available