T126M (p.Thr126Met) variant of PLAT (P00750)
T126M (p.Thr126Met) in PLAT (P00750) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
T126M (p.Thr126Met) variant details
- p.Thr126Met
- ExAC rs747219199
- gnomAD rs747219199
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- REVEL 0.14
- CADD 14.30
- PolyPhen-2 0.10
- SIFT 0.12
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the HGDP:HAN population (allele frequency 0.015)
- Structural context available