S4I (p.Ser4Ile) variant of SHANK1 (Q9Y566)
S4I (p.Ser4Ile) in SHANK1 (Q9Y566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
S4I (p.Ser4Ile) variant details
- p.Ser4Ile
- cosmic curated COSV10512
- gnomAD rs1273864257
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.19
- MetaLR 0.16
- MetaSVM -0.68
- CADD 26.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00012)
- Structural context available