V4A (p.Val4Ala) variant of ATM (Serine-protein kinase ATM)
V4A (p.Val4Ala) 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 0.29 / 1. The record also includes published literature and structural context.
V4A (p.Val4Ala) variant details
- p.Val4Ala
- rs1555053873
- ClinGen CA382518955
- ClinVar RCV000560752
- ClinVar RCV001185975
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- AlphaMissense 0.13
- MetaLR 0.06
- MetaSVM -1.06
- PolyPhen-2 0.03
- SIFT 0.02
- MutPred 0.37
- 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)