L10F (p.Leu10Phe) variant of ITGB3 (Integrin beta-3)
L10F (p.Leu10Phe) in ITGB3 (Integrin beta-3) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
L10F (p.Leu10Phe) variant details
- p.Leu10Phe
- gnomAD rs1489964393
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- MetaLR 0.05
- MetaSVM -1.02
- CADD 15.30
- PolyPhen-2 0.02
- SIFT 0.14
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.1e-05)
- Structural context available