V76L (p.Val76Leu) variant of APP (Amyloid-beta precursor protein)
V76L (p.Val76Leu) in APP (Amyloid-beta precursor protein) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
V76L (p.Val76Leu) variant details
- p.Val76Leu
- ESP rs151188448
- ExAC rs151188448
- TOPMed rs151188448
- gnomAD rs151188448
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.774
- REVEL 0.73
- CADD 32.00
- PolyPhen-2 0.92
- SIFT 0.01
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available