S30T (p.Ser30Thr) variant of CNTNAP2 (Q9UHC6)
S30T (p.Ser30Thr) in CNTNAP2 (Q9UHC6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
S30T (p.Ser30Thr) variant details
- p.Ser30Thr
- gnomAD rs1465250562
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- REVEL 0.16
- CADD 12.60
- PolyPhen-2 0.00
- SIFT 0.58
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available