R35P (p.Arg35Pro) variant of SHANK1 (Q9Y566)
R35P (p.Arg35Pro) in SHANK1 (Q9Y566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
R35P (p.Arg35Pro) variant details
- p.Arg35Pro
- ESP rs368372946
- ExAC rs368372946
- TOPMed rs368372946
- gnomAD rs368372946
- Missense
- Variant Prioritization Score for Impact Estimate 0.111
- REVEL 0.07
- MetaLR 0.04
- MetaSVM -1.04
- CADD 8.90
- PolyPhen-2 0.11
- SIFT 0.06
- Most common in the REMAINING population (allele frequency 5.1e-05)
- Structural context available