T75M (p.Thr75Met) variant of SPTBN2 (O15020)
T75M (p.Thr75Met) in SPTBN2 (O15020) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data.
T75M (p.Thr75Met) variant details
- p.Thr75Met
- rs369925402
- ClinGen CA6129737
- cosmic curated COSV59454
- ClinVar RCV003816474
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- REVEL 0.40
- CADD 27.30
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00012)