L66P (p.Leu66Pro) variant of SIX1 (Homeobox protein SIX1)
L66P (p.Leu66Pro) in SIX1 (Homeobox protein SIX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
L66P (p.Leu66Pro) variant details
- p.Leu66Pro
- gnomAD rs1161503372
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available