G49R (p.Gly49Arg) variant of SHANK1 (Q9Y566)
G49R (p.Gly49Arg) in SHANK1 (Q9Y566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
G49R (p.Gly49Arg) variant details
- p.Gly49Arg
- ExAC rs752720674
- TOPMed rs752720674
- gnomAD rs752720674
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.16
- MetaLR 0.06
- MetaSVM -0.95
- CADD 23.20
- PolyPhen-2 0.45
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 4.6e-05)
- Structural context available