V27L (p.Val27Leu) variant of ATM (Serine-protein kinase ATM)
V27L (p.Val27Leu) in ATM (Serine-protein kinase ATM) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes published literature and structural context.
V27L (p.Val27Leu) variant details
- p.Val27Leu
- rs754770960
- ClinGen CA382519502
- ClinVar RCV000793435
- ClinVar RCV003279064
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- AlphaMissense 0.35
- MetaLR 0.19
- MetaSVM -0.74
- PolyPhen-2 0.68
- SIFT 0.02
- EVE 0.20
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. (PMID 20050888)
- Cited in: Hereditary Ataxia Overview. (PMID 20301317)