P38A (p.Pro38Ala) variant of SIX1 (Homeobox protein SIX1)
P38A (p.Pro38Ala) in SIX1 (Homeobox protein SIX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P38A (p.Pro38Ala) variant details
- p.Pro38Ala
- ExAC rs760736490
- TOPMed rs760736490
- gnomAD rs760736490
- Missense
- Variant Prioritization Score for Impact Estimate 0.789
- CADD 27.40
- PolyPhen-2 0.84
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- SIX1 Homeobox domain domainome 1.0: score -0.865