G2R (p.Gly2Arg) variant of CLN3 (Battenin)
G2R (p.Gly2Arg) in CLN3 (Battenin) 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 0.52 / 1. The record also includes population frequency data.
G2R (p.Gly2Arg) variant details
- p.Gly2Arg
- TOPMed rs2046319139
- NCI-TCGA Cosmic COSV1001
- cosmic curated COSV10011
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- CADD 23.20
- PolyPhen-2 0.55
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)