L34V (p.Leu34Val) variant of SIX1 (Homeobox protein SIX1)
L34V (p.Leu34Val) in SIX1 (Homeobox protein SIX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L34V (p.Leu34Val) variant details
- p.Leu34Val
- gnomAD 14-60649090-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.709
- CADD 26.10
- PolyPhen-2 0.56
- SIFT 0.00
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available
- SIX1 Homeobox domain domainome 1.0: score -0.641
- Literature evidence available