A28V (p.Ala28Val) variant of CNTNAP2 (Q9UHC6)
A28V (p.Ala28Val) in CNTNAP2 (Q9UHC6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes structural context.
A28V (p.Ala28Val) variant details
- p.Ala28Val
- rs796052366
- ClinGen CA314068
- ClinVar RCV000187150
- Ensembl rs796052366
- Likely benign
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- AlphaMissense 0.10
- MetaLR 0.46
- MetaSVM -0.42
- PolyPhen-2 0.01
- SIFT 0.14
- MutPred 0.50
- ClinVar: Likely benign (not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available