R5C (p.Arg5Cys) variant of MAPT (P10636)
R5C (p.Arg5Cys) in MAPT (P10636) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of MAPT-Related Spectrum Disorders; Frontotemporal dementia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
R5C (p.Arg5Cys) variant details
- p.Arg5Cys
- rs766166210
- ClinGen CA8617493
- NCI-TCGA Cosmic COSV9929
- ClinVar RCV001123790
- Conflicting interpretations
- MAPT-Related Spectrum Disorders; Frontotemporal dementia
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.19
- MetaLR 0.21
- MetaSVM -0.74
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.04
- ClinVar: Conflicting classifications of pathogenicity (MAPT-Related Spectrum Disorders; Frontotemporal dementia)
- EBI: Benign (in PSNP1)
- UniProt: Benign (in PSNP1)
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)