R42W (p.Arg42Trp) variant of PSEN1 (Presenilin-1)
R42W (p.Arg42Trp) in PSEN1 (Presenilin-1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
R42W (p.Arg42Trp) variant details
- p.Arg42Trp
- rs140189461
- NCI-TCGA Cosmic COSV5619
- cosmic curated COSV56194
- ESP rs140189461
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.459
- REVEL 0.58
- CADD 20.20
- PolyPhen-2 0.31
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available