L31F (p.Leu31Phe) variant of ABCC8 (Q09428)
L31F (p.Leu31Phe) in ABCC8 (Q09428) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
L31F (p.Leu31Phe) variant details
- p.Leu31Phe
- ExAC rs780968014
- gnomAD rs780968014
- Missense
- Variant Prioritization Score for Impact Estimate 0.782
- REVEL 0.80
- CADD 26.10
- PolyPhen-2 0.89
- SIFT 0.06
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available