P768L (p.Pro768Leu) variant of NTRK1 (P04629)
P768L (p.Pro768Leu) in NTRK1 (P04629) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hereditary insensitivity to pain with anhidrosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
P768L (p.Pro768Leu) variant details
- p.Pro768Leu
- rs756981419
- ClinGen CA1169628
- ClinVar RCV000789685
- ClinVar RCV000820283
- Pathogenic
- Hereditary insensitivity to pain with anhidrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.897
- REVEL 0.95
- MetaLR 0.90
- MetaSVM 1.01
- CADD 28.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Hereditary insensitivity to pain with anhidrosis)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: NTRK1 Congenital Insensitivity to Pain with Anhidrosis. (PMID 20301726)