T21A (p.Thr21Ala) variant of ATM (Serine-protein kinase ATM)
T21A (p.Thr21Ala) 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 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
T21A (p.Thr21Ala) variant details
- p.Thr21Ala
- rs1565344141
- ClinGen CA382519319
- ClinVar RCV000710674
- ClinVar RCV001273648
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- AlphaMissense 0.12
- MetaLR 0.13
- MetaSVM -0.91
- CADD 25.70
- PolyPhen-2 0.28
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 7.7e-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)