D19N (p.Asp19Asn) variant of PSEN1 (Presenilin-1)
D19N (p.Asp19Asn) in PSEN1 (Presenilin-1) 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 0.60 / 1. The record also includes population frequency data and structural context.
D19N (p.Asp19Asn) variant details
- p.Asp19Asn
- rs1555350551
- NCI-TCGA Cosmic COSV9999
- cosmic curated COSV99998
- Ensembl rs1555350551
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- REVEL 0.50
- CADD 24.50
- PolyPhen-2 0.00
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available