D77N (p.Asp77Asn) variant of SHANK2 (Q9UPX8)
D77N (p.Asp77Asn) in SHANK2 (Q9UPX8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data.
D77N (p.Asp77Asn) variant details
- p.Asp77Asn
- TOPMed rs1555100969
- gnomAD rs1555100969
- Missense
- Variant Prioritization Score for Impact Estimate 0.586
- CADD 19.40
- PolyPhen-2 0.43
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 3.4e-05)