K31N (p.Lys31Asn) variant of ATM (Serine-protein kinase ATM)
K31N (p.Lys31Asn) in ATM (Serine-protein kinase ATM) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
K31N (p.Lys31Asn) variant details
- p.Lys31Asn
- rs863224583
- ClinGen CA336966
- ClinVar RCV000197073
- ClinVar RCV000564628
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- CADD 22.70
- PolyPhen-2 0.44
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.3e-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)