T4M (p.Thr4Met) variant of SPTBN2 (O15020)
T4M (p.Thr4Met) in SPTBN2 (O15020) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data.
T4M (p.Thr4Met) variant details
- p.Thr4Met
- rs749463565
- NCI-TCGA Cosmic COSV1000
- cosmic curated COSV10002
- ExAC rs749463565
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.26
- CADD 19.50
- PolyPhen-2 0.05
- SIFT 0.30
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)