S49N (p.Ser49Asn) variant of VIM (Vimentin)
S49N (p.Ser49Asn) in VIM (Vimentin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
S49N (p.Ser49Asn) variant details
- p.Ser49Asn
- gnomAD rs1312761190
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.43
- CADD 22.60
- PolyPhen-2 0.36
- SIFT 0.06
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available