A14S (p.Ala14Ser) variant of ABCC8 (Q09428)
A14S (p.Ala14Ser) in ABCC8 (Q09428) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
A14S (p.Ala14Ser) variant details
- p.Ala14Ser
- gnomAD rs1298051389
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.38
- CADD 21.70
- PolyPhen-2 0.09
- SIFT 0.64
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available