T46M (p.Thr46Met) variant of PLAT (P00750)
T46M (p.Thr46Met) in PLAT (P00750) 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 0.44 / 1. The record also includes population frequency data and structural context.
T46M (p.Thr46Met) variant details
- p.Thr46Met
- rs375926300
- NCI-TCGA Cosmic COSV5427
- cosmic curated COSV54276
- ESP rs375926300
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.37
- CADD 24.30
- PolyPhen-2 0.99
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available