R60C (p.Arg60Cys) variant of SHANK1 (Q9Y566)
R60C (p.Arg60Cys) in SHANK1 (Q9Y566) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
R60C (p.Arg60Cys) variant details
- p.Arg60Cys
- cosmic curated COSV53255
- ExAC rs753526209
- TOPMed rs753526209
- gnomAD rs753526209
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.24
- MetaLR 0.11
- MetaSVM -1.06
- CADD 28.30
- PolyPhen-2 0.75
- SIFT 0.07
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available