G101V (p.Gly101Val) variant of APP (Amyloid-beta precursor protein)
G101V (p.Gly101Val) in APP (Amyloid-beta precursor protein) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes structural context.
G101V (p.Gly101Val) variant details
- p.Gly101Val
- rs532382285
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10069
- 1000Genomes rs532382285
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.746
- AlphaMissense 0.24
- MetaLR 0.92
- MetaSVM 1.02
- PolyPhen-2 0.98
- SIFT 0.00
- EVE 0.65
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available