S53F (p.Ser53Phe) variant of SHANK1 (Q9Y566)
S53F (p.Ser53Phe) in SHANK1 (Q9Y566) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. 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.
S53F (p.Ser53Phe) variant details
- p.Ser53Phe
- rs2513973102
- ClinGen CA406998596
- ClinVar RCV002281259
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.20
- MetaLR 0.08
- MetaSVM -0.97
- CADD 25.50
- PolyPhen-2 0.66
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available