R38P (p.Arg38Pro) variant of SHANK1 (Q9Y566)
R38P (p.Arg38Pro) in SHANK1 (Q9Y566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
R38P (p.Arg38Pro) variant details
- p.Arg38Pro
- ExAC rs764819969
- TOPMed rs764819969
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.15
- MetaLR 0.06
- MetaSVM -1.02
- CADD 20.80
- PolyPhen-2 0.02
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available