Q105R (p.Gln105Arg) variant of SHANK2 (Q9UPX8)
Q105R (p.Gln105Arg) in SHANK2 (Q9UPX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data.
Q105R (p.Gln105Arg) variant details
- p.Gln105Arg
- ExAC rs782285873
- TOPMed rs782285873
- gnomAD rs782285873
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- CADD 25.10
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)