M122I (p.Met122Ile) variant of GNA13 (Q14344)
M122I (p.Met122Ile) in GNA13 (Q14344) 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 0.40 / 1. The record also includes population frequency data.
M122I (p.Met122Ile) variant details
- p.Met122Ile
- NCI-TCGA Cosmic COSV7147
- cosmic curated COSV71474
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.39
- MetaLR 0.33
- MetaSVM -0.59
- CADD 20.60
- PolyPhen-2 0.01
- SIFT 0.53
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)