V55A (p.Val55Ala) variant of SIX1 (Homeobox protein SIX1)
V55A (p.Val55Ala) in SIX1 (Homeobox protein SIX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
V55A (p.Val55Ala) variant details
- p.Val55Ala
- TOPMed rs1251187381
- gnomAD rs1251187381
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- CADD 23.60
- PolyPhen-2 0.01
- SIFT 0.11
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available