G169S (p.Gly169Ser) variant of APP (Amyloid-beta precursor protein)
G169S (p.Gly169Ser) in APP (Amyloid-beta precursor protein) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data and structural context.
G169S (p.Gly169Ser) variant details
- p.Gly169Ser
- rs201102339
- NCI-TCGA Cosmic COSV6100
- cosmic curated COSV61006
- ExAC rs201102339
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.889
- REVEL 0.95
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available