L13F (p.Leu13Phe) variant of IAPP (Islet amyloid polypeptide)
L13F (p.Leu13Phe) in IAPP (Islet amyloid polypeptide) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
L13F (p.Leu13Phe) variant details
- p.Leu13Phe
- rs373616376
- ClinGen CA6477945
- ClinVar RCV004168069
- ESP rs373616376
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- REVEL 0.19
- CADD 7.40
- PolyPhen-2 0.07
- SIFT 0.07
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00013)
- Structural context available