Q33R (p.Gln33Arg) variant of CNTNAP2 (Q9UHC6)
Q33R (p.Gln33Arg) 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 0.45 / 1. The record also includes structural context.
Q33R (p.Gln33Arg) variant details
- p.Gln33Arg
- rs2129185951
- ClinGen CA369922219
- ClinVar RCV001774898
- Ensembl rs2129185951
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- AlphaMissense 0.10
- MetaLR 0.43
- MetaSVM -0.45
- PolyPhen-2 0.04
- SIFT 0.74
- MutPred 0.29
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available