A39V (p.Ala39Val) variant of SIX1 (Homeobox protein SIX1)
A39V (p.Ala39Val) in SIX1 (Homeobox protein SIX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A39V (p.Ala39Val) variant details
- p.Ala39Val
- gnomAD 14-60649074-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.728
- CADD 23.90
- PolyPhen-2 0.02
- SIFT 0.03
- Population evidence available
- Structural context available
- SIX1 Homeobox domain domainome 1.0: score -0.483
- Literature evidence available