R35Q (p.Arg35Gln) variant of SHANK1 (Q9Y566)
R35Q (p.Arg35Gln) in SHANK1 (Q9Y566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
R35Q (p.Arg35Gln) variant details
- p.Arg35Gln
- ESP rs368372946
- ExAC rs368372946
- TOPMed rs368372946
- gnomAD rs368372946
- Missense
- Variant Prioritization Score for Impact Estimate 0.0821
- REVEL 0.01
- MetaLR 0.04
- MetaSVM -1.02
- CADD 9.16
- PolyPhen-2 0.00
- SIFT 0.10
- Most common in the South Asian population (allele frequency 4.9e-05)
- Structural context available