V49I (p.Val49Ile) variant of SIX1 (Homeobox protein SIX1)
V49I (p.Val49Ile) in SIX1 (Homeobox protein SIX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V49I (p.Val49Ile) variant details
- p.Val49Ile
- TOPMed rs904273350
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- CADD 22.50
- PolyPhen-2 0.08
- SIFT 0.02
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- SIX1 Homeobox domain domainome 1.0: score 0.0393