R62H (p.Arg62His) variant of PSEN2 (Presenilin-2)
R62H (p.Arg62His) in PSEN2 (Presenilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not specified; not provided; Alzheimer disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
R62H (p.Arg62His) variant details
- p.Arg62His
- rs58973334
- ClinGen CA224946
- ClinVar RCV000084258
- ClinVar RCV000172777
- Benign/Likely benign
- not specified; not provided; Alzheimer disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.29
- CADD 6.29
- PolyPhen-2 0.00
- SIFT 0.13
- ClinVar: Benign/Likely benign (not specified; not provided; Alzheimer disease)
- EBI: Benign (in AD4)
- UniProt: Benign (in AD4)
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- Cited in: Identification of PSEN1 and PSEN2 gene mutations and variants in Turkish dementia patients. (PMID 22503161)
- Cited in: Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile… (PMID 9384602)