R139Q (p.Arg139Gln) variant of SHANK1 (Q9Y566)
R139Q (p.Arg139Gln) in SHANK1 (Q9Y566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
R139Q (p.Arg139Gln) variant details
- p.Arg139Gln
- cosmic curated COSV10453
- gnomAD rs1756532215
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.19
- MetaLR 0.08
- MetaSVM -1.04
- CADD 24.50
- PolyPhen-2 0.72
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available