R602Q (p.Arg602Gln) variant of NTRK1 (P04629)
R602Q (p.Arg602Gln) in NTRK1 (P04629) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hereditary insensitivity to pain with anhidrosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
R602Q (p.Arg602Gln) variant details
- p.Arg602Gln
- rs1647932465
- ClinGen CA342938743
- cosmic curated COSV62325
- ClinVar RCV001700866
- Pathogenic/Likely pathogenic
- Hereditary insensitivity to pain with anhidrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.82
- REVEL 0.86
- CADD 37.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Hereditary insensitivity to pain with anhidrosis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Middle Eastern population (allele frequency 0.0011)
- Structural context available
- Cited in: NTRK1 Congenital Insensitivity to Pain with Anhidrosis. (PMID 20301726)
- Cited in: Congenital Insensitivity to Pain Overview. (PMID 29419974)