P29S (p.Pro29Ser) variant of CNTNAP2 (Q9UHC6)
P29S (p.Pro29Ser) in CNTNAP2 (Q9UHC6) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
P29S (p.Pro29Ser) variant details
- p.Pro29Ser
- NCI-TCGA Cosmic COSV6222
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.13
- CADD 16.80
- PolyPhen-2 0.00
- SIFT 0.68
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available