R126Q (p.Arg126Gln) variant of PICALM (Q13492)
R126Q (p.Arg126Gln) 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 0.62 / 1. The record also includes population frequency data and structural context.
R126Q (p.Arg126Gln) variant details
- p.Arg126Gln
- rs967543022
- NCI-TCGA Cosmic COSV6267
- cosmic curated COSV62673
- Ensembl rs967543022
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.62
- REVEL 0.46
- CADD 32.00
- PolyPhen-2 0.95
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available