F75L (p.Phe75Leu) variant of SIX1 (Homeobox protein SIX1)
F75L (p.Phe75Leu) in SIX1 (Homeobox protein SIX1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
F75L (p.Phe75Leu) variant details
- p.Phe75Leu
- rs1291757623
- NCI-TCGA Cosmic COSV5596
- cosmic curated COSV55960
- ClinGen CA389910764
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- CADD 26.20
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available