S24A (p.Ser24Ala) variant of PAX6 (Paired box protein Pax-6)
S24A (p.Ser24Ala) in PAX6 (Paired box protein Pax-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S24A (p.Ser24Ala) variant details
- p.Ser24Ala
- gnomAD rs1819194915
- Missense
- Variant Prioritization Score for Impact Estimate 0.607
- CADD 23.60
- PolyPhen-2 0.45
- SIFT 0.08
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- PAX6 Homeobox domain domainome 1.0: score -0.881