L37P (p.Leu37Pro) variant of SIX1 (Homeobox protein SIX1)
L37P (p.Leu37Pro) 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, experimental measurements, and structural context.
L37P (p.Leu37Pro) variant details
- p.Leu37Pro
- cosmic curated COSV55960
- Missense
- Variant Prioritization Score for Impact Estimate 0.69
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.02
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- SIX1 Homeobox domain domainome 1.0: score -0.364