L70V (p.Leu70Val) variant of SIX1 (Homeobox protein SIX1)
L70V (p.Leu70Val) in SIX1 (Homeobox protein SIX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
L70V (p.Leu70Val) variant details
- p.Leu70Val
- ESP rs372978267
- ExAC rs372978267
- gnomAD rs372978267
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- CADD 22.90
- PolyPhen-2 0.41
- SIFT 0.01
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available