G577S (p.Gly577Ser) variant of NTRK1 (P04629)
G577S (p.Gly577Ser) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
G577S (p.Gly577Ser) variant details
- p.Gly577Ser
- rs121964866
- ClinGen CA1169449
- ClinVar RCV002886362
- ExAC rs121964866
- Pathogenic/Likely pathogenic
- Hereditary insensitivity to pain with anhidrosis; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.888
- REVEL 0.96
- AlphaMissense 1.00
- MetaLR 0.85
- MetaSVM 0.89
- CADD 31.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Hereditary insensitivity to pain with anhidrosis; not provided)
- EBI: Pathogenic (in CIPA)
- UniProt: Pathogenic (in CIPA)
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available
- Cited in: NTRK1 Congenital Insensitivity to Pain with Anhidrosis. (PMID 20301726)
- Cited in: Congenital Insensitivity to Pain Overview. (PMID 29419974)