T145M (p.Thr145Met) variant of ATP13A2 (Q9NQ11)
T145M (p.Thr145Met) 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 0.45 / 1. The record also includes population frequency data and structural context.
T145M (p.Thr145Met) variant details
- p.Thr145Met
- rs774684946
- NCI-TCGA Cosmic COSV1004
- cosmic curated COSV10045
- ExAC rs774684946
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.29
- CADD 25.40
- PolyPhen-2 0.98
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available