T128M (p.Thr128Met) variant of BIN1 (O00499)
T128M (p.Thr128Met) in BIN1 (O00499) 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 0.56 / 1. The record also includes population frequency data and structural context.
T128M (p.Thr128Met) variant details
- p.Thr128Met
- rs756882994
- NCI-TCGA Cosmic COSV9938
- cosmic curated COSV99388
- ExAC rs756882994
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- REVEL 0.42
- CADD 24.30
- PolyPhen-2 0.35
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available