Q105P (p.Gln105Pro) variant of SHANK2 (Q9UPX8)
Q105P (p.Gln105Pro) 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.
Q105P (p.Gln105Pro) variant details
- p.Gln105Pro
- ExAC rs782285873
- TOPMed rs782285873
- gnomAD rs782285873
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- CADD 25.40
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)