L6Q (p.Leu6Gln) variant of IAPP (Islet amyloid polypeptide)
L6Q (p.Leu6Gln) in IAPP (Islet amyloid polypeptide) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
L6Q (p.Leu6Gln) variant details
- p.Leu6Gln
- ESP rs374152437
- TOPMed rs374152437
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- REVEL 0.66
- CADD 23.50
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available