V68A (p.Val68Ala) variant of PSEN2 (Presenilin-2)
V68A (p.Val68Ala) in PSEN2 (Presenilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of 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.
V68A (p.Val68Ala) variant details
- p.Val68Ala
- rs765144719
- ClinGen CA1424436
- ClinVar RCV001363163
- ClinVar RCV002476655
- Uncertain significance
- Alzheimer disease 4; Dilated cardiomyopathy 1V
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.33
- CADD 6.74
- PolyPhen-2 0.00
- SIFT 0.76
- ClinVar: Uncertain significance (Alzheimer disease 4; Dilated cardiomyopathy 1V)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- 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)