R64P (p.Arg64Pro) variant of SIX1 (Homeobox protein SIX1)
R64P (p.Arg64Pro) in SIX1 (Homeobox protein SIX1) 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 0.73 / 1. The record also includes population frequency data and structural context.
R64P (p.Arg64Pro) variant details
- p.Arg64Pro
- TOPMed rs1051653507
- gnomAD rs1051653507
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- CADD 23.70
- PolyPhen-2 0.02
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available