N100T (p.Asn100Thr) variant of SHANK2 (Q9UPX8)
N100T (p.Asn100Thr) 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.
N100T (p.Asn100Thr) variant details
- p.Asn100Thr
- gnomAD rs1555100949
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- CADD 24.90
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)