S48R (p.Ser48Arg) variant of SIX1 (Homeobox protein SIX1)
S48R (p.Ser48Arg) in SIX1 (Homeobox protein SIX1) 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 0.54 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S48R (p.Ser48Arg) variant details
- p.Ser48Arg
- ExAC rs770875229
- gnomAD rs770875229
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- CADD 23.60
- PolyPhen-2 0.38
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- SIX1 Homeobox domain domainome 1.0: score -0.0256