R60L (p.Arg60Leu) variant of SHANK1 (Q9Y566)
R60L (p.Arg60Leu) in SHANK1 (Q9Y566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
R60L (p.Arg60Leu) variant details
- p.Arg60Leu
- ESP rs376765376
- ExAC rs376765376
- TOPMed rs376765376
- gnomAD rs376765376
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.22
- MetaLR 0.07
- MetaSVM -1.06
- CADD 25.00
- PolyPhen-2 0.51
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available