R64V (p.Arg64Val) variant of SIX1 (Homeobox protein SIX1)
R64V (p.Arg64Val) in SIX1 (Homeobox protein SIX1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
R64V (p.Arg64Val) variant details
- p.Arg64Val
- gnomAD 14-60648999-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.813
- CADD 31.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available