S28I (p.Ser28Ile) variant of SHANK1 (Q9Y566)
S28I (p.Ser28Ile) in SHANK1 (Q9Y566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
S28I (p.Ser28Ile) variant details
- p.Ser28Ile
- TOPMed rs962501428
- gnomAD rs962501428
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.16
- MetaLR 0.17
- MetaSVM -0.81
- CADD 25.30
- PolyPhen-2 0.80
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available