K269N (p.Lys269Asn) variant of CACNA2D2 (Q9NY47)
K269N (p.Lys269Asn) in CACNA2D2 (Q9NY47) 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 0.34 / 1. The record also includes population frequency data and structural context.
K269N (p.Lys269Asn) variant details
- p.Lys269Asn
- NCI-TCGA Cosmic COSV9981
- cosmic curated COSV99816
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.11
- MetaLR 0.00
- MetaSVM -0.89
- CADD 22.00
- PolyPhen-2 0.00
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available