S19T (p.Ser19Thr) variant of CNTNAP2 (Q9UHC6)
S19T (p.Ser19Thr) in CNTNAP2 (Q9UHC6) 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 0.43 / 1. The record also includes structural context.
S19T (p.Ser19Thr) variant details
- p.Ser19Thr
- rs1064794501
- ClinGen CA16618369
- ClinVar RCV000480461
- Ensembl rs1064794501
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- AlphaMissense 0.10
- MetaLR 0.43
- MetaSVM -0.42
- PolyPhen-2 0.17
- SIFT 0.44
- MutPred 0.55
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available