D97N (p.Asp97Asn) variant of PKD1 (Polycystin-1)
D97N (p.Asp97Asn) in PKD1 (Polycystin-1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact in the context of in PKD1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
D97N (p.Asp97Asn) variant details
- p.Asp97Asn
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- in PKD1
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.08
- MetaLR 0.13
- MetaSVM -0.95
- CADD 23.70
- PolyPhen-2 0.01
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact. (in PKD1)
- Most common in the Non-Finnish European population (allele frequency 1.3e-05)
- Structural context available