S108N (p.Ser108Asn) variant of SHANK1 (Q9Y566)
S108N (p.Ser108Asn) in SHANK1 (Q9Y566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
S108N (p.Ser108Asn) variant details
- p.Ser108Asn
- ExAC rs779119326
- gnomAD rs779119326
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.07
- MetaLR 0.01
- MetaSVM -0.98
- CADD 18.00
- PolyPhen-2 0.00
- SIFT 0.74
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available