S13I (p.Ser13Ile) variant of MSH2 (DNA mismatch repair protein Msh2)
S13I (p.Ser13Ile) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from EBI and UniProt describe it as benign in the context of in CRC. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
S13I (p.Ser13Ile) variant details
- p.Ser13Ile
- rs63749907
- UniProt VAR 043736
- TOPMed rs63749907
- gnomAD rs63749907
- Benign
- in CRC
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- REVEL 0.55
- ESM-1b 1.00
- AlphaMissense 0.27
- MetaLR 0.57
- MetaSVM 0.13
- CADD 23.20
- EBI: Benign (in CRC)
- UniProt: Benign (in CRC)
- Population evidence available
- Structural context available
- Cited in: Microsatellite instability and mutation analysis among southern Italian patients with colorectal carcinoma: detection… (PMID 14504054)
- Cited in: Oncogenic pathway of sporadic colorectal cancer with novel germline missense mutations in the hMSH2 gene. (PMID 12792735)