S6A (p.Ser6Ala) variant of SIX1 (Homeobox protein SIX1)
S6A (p.Ser6Ala) in SIX1 (Homeobox protein SIX1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S6A (p.Ser6Ala) variant details
- p.Ser6Ala
- ExAC rs749690789
- TOPMed rs749690789
- gnomAD rs749690789
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- CADD 22.10
- PolyPhen-2 0.01
- SIFT 0.08
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available
- SIX1 Homeobox domain domainome 1.0: score 0.166