T49M (p.Thr49Met) variant of SHANK2 (Q9UPX8)
T49M (p.Thr49Met) in SHANK2 (Q9UPX8) 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 0.06 / 1. The record also includes population frequency data.
T49M (p.Thr49Met) variant details
- p.Thr49Met
- rs782002202
- NCI-TCGA Cosmic COSV5832
- cosmic curated COSV58325
- ExAC rs782002202
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0595
- CADD 0.12
- PolyPhen-2 0.00
- SIFT 0.37
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 0.00011)