S14A (p.Ser14Ala) variant of MSH6 (DNA mismatch repair protein Msh6)
S14A (p.Ser14Ala) in MSH6 (DNA mismatch repair protein Msh6) 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 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
S14A (p.Ser14Ala) variant details
- p.Ser14Ala
- rs876660417
- ClinGen CA10578020
- ClinVar RCV000214023
- ClinVar RCV001058725
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.20
- MetaLR 0.38
- MetaSVM -0.62
- CADD 23.40
- PolyPhen-2 0.00
- SIFT 0.34
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology… (PMID 24493721)
- Cited in: Endometrial cancer: a review and current management strategies: part I. (PMID 24905773)