R17W (p.Arg17Trp) variant of PSEN2 (Presenilin-2)
R17W (p.Arg17Trp) in PSEN2 (Presenilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
R17W (p.Arg17Trp) variant details
- p.Arg17Trp
- rs199644116
- ClinGen CA237499
- ClinVar RCV000172097
- ExAC rs199644116
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- REVEL 0.72
- CADD 25.70
- PolyPhen-2 0.91
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available