G140S (p.Gly140Ser) variant of ATP13A2 (Q9NQ11)
G140S (p.Gly140Ser) in ATP13A2 (Q9NQ11) 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 0.36 / 1. The record also includes population frequency data and structural context.
G140S (p.Gly140Ser) variant details
- p.Gly140Ser
- NCI-TCGA Cosmic COSV5870
- cosmic curated COSV58704
- gnomAD rs2077487166
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.357
- REVEL 0.30
- CADD 12.90
- PolyPhen-2 0.00
- SIFT 0.70
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available