G107V (p.Gly107Val) variant of ADCY5 (Adenylate cyclase type 5)
G107V (p.Gly107Val) in ADCY5 (Adenylate cyclase type 5) is a missense change. Clinical records from ClinVar, EBI, 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.
G107V (p.Gly107Val) variant details
- p.Gly107Val
- rs1447414292
- ClinGen CA354358358
- ClinVar RCV003578427
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.14
- MetaLR 0.28
- MetaSVM -0.66
- CADD 22.20
- PolyPhen-2 0.12
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available