F33L (p.Phe33Leu) variant of SIX1 (Homeobox protein SIX1)
F33L (p.Phe33Leu) 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, experimental measurements, and structural context.
F33L (p.Phe33Leu) variant details
- p.Phe33Leu
- ExAC rs764103068
- gnomAD rs764103068
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- CADD 27.50
- PolyPhen-2 0.68
- SIFT 0.00
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- SIX1 Homeobox domain domainome 1.0: score -0.489