D13N (p.Asp13Asn) variant of PDE6B (P35913)
D13N (p.Asp13Asn) in PDE6B (P35913) 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 0.26 / 1. The record also includes population frequency data and structural context.
D13N (p.Asp13Asn) variant details
- p.Asp13Asn
- rs1285867711
- NCI-TCGA Cosmic COSV9972
- cosmic curated COSV99728
- TOPMed rs1285867711
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.13
- MetaLR 0.19
- MetaSVM -0.85
- CADD 18.40
- PolyPhen-2 0.01
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available