R771H (p.Arg771His) variant of NTRK1 (P04629)
R771H (p.Arg771His) 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 0.92 / 1. The record also includes population frequency data, published literature, and structural context.
R771H (p.Arg771His) variant details
- p.Arg771His
- rs780724170
- ClinGen CA1169630
- ClinVar RCV001064041
- ExAC rs780724170
- Pathogenic/Likely pathogenic
- Hereditary insensitivity to pain with anhidrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.917
- REVEL 0.95
- MetaLR 0.98
- MetaSVM 1.03
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Hereditary insensitivity to pain with anhidrosis)
- EBI: Likely pathogenic (in CIPA)
- UniProt: Likely pathogenic (in CIPA)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: NTRK1 Congenital Insensitivity to Pain with Anhidrosis. (PMID 20301726)
- Cited in: Congenital Insensitivity to Pain Overview. (PMID 29419974)