M1K (p.Met1Lys) variant of NTRK1 (P04629)
M1K (p.Met1Lys) in NTRK1 (P04629) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary insensitivity to pain with anhidrosis. The record also includes variant effect predictions, published literature, and structural context.
M1K (p.Met1Lys) variant details
- p.Met1Lys
- rs2102878838
- ClinGen CA342928804
- ClinVar RCV004515796
- Likely pathogenic
- Hereditary insensitivity to pain with anhidrosis
- Missense
- MetaLR 0.47
- MetaSVM 0.05
- PolyPhen-2 0.96
- SIFT 0.00
- MutPred 0.62
- ClinVar: Likely pathogenic (Hereditary insensitivity to pain with anhidrosis)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: NTRK1 Congenital Insensitivity to Pain with Anhidrosis. (PMID 20301726)
- Cited in: Congenital Insensitivity to Pain Overview. (PMID 29419974)