R38W (p.Arg38Trp) variant of SHANK1 (Q9Y566)
R38W (p.Arg38Trp) in SHANK1 (Q9Y566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
R38W (p.Arg38Trp) variant details
- p.Arg38Trp
- ExAC rs774708596
- TOPMed rs774708596
- gnomAD rs774708596
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.13
- MetaLR 0.05
- MetaSVM -1.04
- CADD 23.50
- PolyPhen-2 0.12
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 5.2e-05)
- Structural context available