R60H (p.Arg60His) variant of SHANK2 (Q9UPX8)
R60H (p.Arg60His) in SHANK2 (Q9UPX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data.
R60H (p.Arg60His) variant details
- p.Arg60His
- 1000Genomes rs782494595
- ExAC rs782494595
- TOPMed rs782494595
- gnomAD rs782494595
- Missense
- Variant Prioritization Score for Impact Estimate 0.696
- CADD 23.40
- PolyPhen-2 0.20
- SIFT 0.00
- Most common in the 1KG:CHB population (allele frequency 0.0049)