V56A (p.Val56Ala) variant of SIX1 (Homeobox protein SIX1)
V56A (p.Val56Ala) in SIX1 (Homeobox protein SIX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
V56A (p.Val56Ala) variant details
- p.Val56Ala
- gnomAD 14-60649023-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- CADD 25.60
- PolyPhen-2 0.26
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available