L70R (p.Leu70Arg) variant of SIX1 (Homeobox protein SIX1)
L70R (p.Leu70Arg) 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 0.94 / 1. The record also includes structural context.
L70R (p.Leu70Arg) variant details
- p.Leu70Arg
- rs2140241330
- ClinGen CA389910803
- ClinVar RCV001756584
- Ensembl rs2140241330
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.937
- AlphaMissense 1.00
- MetaLR 0.93
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.97
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available