R41Q (p.Arg41Gln) variant of SHANK1 (Q9Y566)
R41Q (p.Arg41Gln) in SHANK1 (Q9Y566) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
R41Q (p.Arg41Gln) variant details
- p.Arg41Gln
- rs558942714
- ClinGen CA9602236
- ClinVar RCV001658894
- 1000Genomes rs558942714
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.13
- MetaLR 0.08
- MetaSVM -1.07
- CADD 22.40
- PolyPhen-2 0.89
- SIFT 0.08
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.0063)
- Structural context available