R18W (p.Arg18Trp) variant of MCCC1 (Q96RQ3)
R18W (p.Arg18Trp) in MCCC1 (Q96RQ3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
R18W (p.Arg18Trp) variant details
- p.Arg18Trp
- gnomAD rs1443414652
- Missense
- Variant Prioritization Score for Impact Estimate 0.542
- REVEL 0.47
- CADD 25.30
- PolyPhen-2 0.45
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available