R143W (p.Arg143Trp) variant of SHANK2 (Q9UPX8)
R143W (p.Arg143Trp) in SHANK2 (Q9UPX8) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of Autism, susceptibility to, 17; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data.
R143W (p.Arg143Trp) variant details
- p.Arg143Trp
- cosmic curated COSV10816
- TOPMed rs1468274204
- gnomAD rs1468274204
- Conflicting interpretations
- Autism, susceptibility to, 17; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.757
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Autism, susceptibility to, 17; Inborn genetic diseases)
- UniProt: Conflicting interpretations
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)