V13A (p.Val13Ala) variant of PSEN2 (Presenilin-2)
V13A (p.Val13Ala) in PSEN2 (Presenilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Alzheimer disease 4; Dilated cardiomyopathy 1V. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
V13A (p.Val13Ala) variant details
- p.Val13Ala
- rs766853710
- ClinGen CA10609253
- ClinVar RCV000262295
- ClinVar RCV000317441
- Uncertain significance
- Inborn genetic diseases; Alzheimer disease 4; Dilated cardiomyopathy 1V
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.42
- CADD 18.20
- PolyPhen-2 0.03
- SIFT 0.52
- ClinVar: Uncertain significance (Inborn genetic diseases; Alzheimer disease 4; Dilated cardiomyop)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-05)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: Alzheimer Disease Overview. (PMID 20301340)