V144G (p.Val144Gly) variant of SHANK2 (Q9UPX8)
V144G (p.Val144Gly) in SHANK2 (Q9UPX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data.
V144G (p.Val144Gly) variant details
- p.Val144Gly
- 1000Genomes rs782270817
- ExAC rs782270817
- TOPMed rs782270817
- gnomAD rs782270817
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- CADD 27.30
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 3.7e-06)