R126W (p.Arg126Trp) variant of PICALM (Q13492)
R126W (p.Arg126Trp) in PICALM (Q13492) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
R126W (p.Arg126Trp) variant details
- p.Arg126Trp
- rs1160579539
- NCI-TCGA Cosmic COSV6266
- cosmic curated COSV62668
- gnomAD rs1160579539
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- REVEL 0.60
- CADD 30.00
- PolyPhen-2 0.83
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available