S46R (p.Ser46Arg) variant of FH (P07954)
S46R (p.Ser46Arg) in FH (P07954) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
S46R (p.Ser46Arg) variant details
- p.Ser46Arg
- rs1211942353
- NCI-TCGA Cosmic COSV1008
- gnomAD rs1211942353
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.70
- CADD 22.40
- PolyPhen-2 0.05
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available