A52V (p.Ala52Val) variant of SIX1 (Homeobox protein SIX1)
A52V (p.Ala52Val) in SIX1 (Homeobox protein SIX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
A52V (p.Ala52Val) variant details
- p.Ala52Val
- TOPMed rs1258971434
- gnomAD rs1258971434
- Missense
- Variant Prioritization Score for Impact Estimate 0.827
- CADD 32.00
- PolyPhen-2 0.78
- SIFT 0.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available