V27I (p.Val27Ile) variant of ATM (Serine-protein kinase ATM)
V27I (p.Val27Ile) 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 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
V27I (p.Val27Ile) variant details
- p.Val27Ile
- rs754770960
- ClinGen CA193258
- ClinVar RCV000165389
- ClinVar RCV000235556
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- AlphaMissense 0.35
- MetaLR 0.19
- MetaSVM -0.74
- CADD 12.30
- PolyPhen-2 0.68
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00044)
- 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)