Y82C (p.Tyr82Cys) variant of SPTBN2 (O15020)
Y82C (p.Tyr82Cys) in SPTBN2 (O15020) 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 0.72 / 1. The record also includes population frequency data.
Y82C (p.Tyr82Cys) variant details
- p.Tyr82Cys
- NCI-TCGA Cosmic COSV5944
- cosmic curated COSV59446
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- REVEL 0.76
- CADD 28.50
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)