P38A (p.Pro38Ala) variant of CNTNAP2 (Q9UHC6)
P38A (p.Pro38Ala) 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 0.51 / 1. The record also includes structural context.
P38A (p.Pro38Ala) variant details
- p.Pro38Ala
- rs2129185957
- ClinGen CA369922251
- NCI-TCGA Cosmic COSV1006
- ClinVar RCV001753360
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- AlphaMissense 0.21
- MetaLR 0.62
- MetaSVM 0.10
- PolyPhen-2 0.09
- SIFT 0.07
- MutPred 0.59
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available