G120S (p.Gly120Ser) variant of SLC22A2 (O15244)
G120S (p.Gly120Ser) in SLC22A2 (O15244) 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 0.10 / 1. The record also includes population frequency data and structural context.
G120S (p.Gly120Ser) variant details
- p.Gly120Ser
- NCI-TCGA Cosmic COSV1008
- cosmic curated COSV10087
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.103
- REVEL 0.04
- CADD 7.31
- PolyPhen-2 0.03
- SIFT 0.63
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available