T21I (p.Thr21Ile) variant of ATM (Serine-protein kinase ATM)
T21I (p.Thr21Ile) 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 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
T21I (p.Thr21Ile) variant details
- p.Thr21Ile
- rs1442769051
- ClinGen CA382519334
- ClinVar RCV001959355
- gnomAD rs1442769051
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- AlphaMissense 0.35
- MetaLR 0.31
- MetaSVM -0.34
- CADD 28.50
- PolyPhen-2 0.99
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- 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)