S29P (p.Ser29Pro) variant of SHANK1 (Q9Y566)
S29P (p.Ser29Pro) in SHANK1 (Q9Y566) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
S29P (p.Ser29Pro) variant details
- p.Ser29Pro
- ExAC rs757580347
- TOPMed rs757580347
- gnomAD rs757580347
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.11
- MetaLR 0.15
- MetaSVM -0.82
- CADD 26.10
- PolyPhen-2 0.88
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available