M1L (p.Met1Leu) variant of NTRK1 (P04629)
M1L (p.Met1Leu) in NTRK1 (P04629) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes variant effect predictions, published literature, and structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs1655612629
- ClinGen CA342928796
- ClinVar RCV001197778
- Uncertain significance
- not provided
- Missense
- MetaLR 0.44
- MetaSVM -0.04
- PolyPhen-2 0.81
- SIFT 0.00
- MutPred 0.60
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: NTRK1 Congenital Insensitivity to Pain with Anhidrosis. (PMID 20301726)
- Cited in: Congenital Insensitivity to Pain Overview. (PMID 29419974)