R71W (p.Arg71Trp) variant of PSEN2 (Presenilin-2)
R71W (p.Arg71Trp) 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 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
R71W (p.Arg71Trp) variant details
- p.Arg71Trp
- rs140501902
- ClinGen CA199983
- cosmic curated COSV10522
- ClinVar RCV000172587
- Benign/Likely benign
- not specified; not provided; Alzheimer disease 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- REVEL 0.61
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.02
- ClinVar: Benign/Likely benign (not specified; not provided; Alzheimer disease 4)
- EBI: Benign (in AD4)
- UniProt: Benign (in AD4)
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available
- Cited in: Presenilin 2 mutation R71W in an Italian early-onset sporadic Alzheimer's disease case. (PMID 21544564)
- Cited in: Identification of PSEN1 and PSEN2 gene mutations and variants in Turkish dementia patients. (PMID 22503161)