P44R (p.Pro44Arg) variant of CNTNAP2 (Q9UHC6)
P44R (p.Pro44Arg) in CNTNAP2 (Q9UHC6) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
P44R (p.Pro44Arg) variant details
- p.Pro44Arg
- NCI-TCGA Cosmic COSV6216
- NCI-TCGA Cosmic COSV6226
- TOPMed rs1802349423
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- REVEL 0.76
- CADD 23.10
- PolyPhen-2 0.66
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available