R35L (p.Arg35Leu) variant of SHANK1 (Q9Y566)
R35L (p.Arg35Leu) in SHANK1 (Q9Y566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
R35L (p.Arg35Leu) variant details
- p.Arg35Leu
- ESP rs368372946
- ExAC rs368372946
- TOPMed rs368372946
- gnomAD rs368372946
- Missense
- Variant Prioritization Score for Impact Estimate 0.0998
- REVEL 0.02
- MetaLR 0.04
- MetaSVM -1.05
- CADD 14.90
- PolyPhen-2 0.03
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available