P695L (p.Pro695Leu) variant of NTRK1 (P04629)
P695L (p.Pro695Leu) 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 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
P695L (p.Pro695Leu) variant details
- p.Pro695Leu
- rs121964868
- ClinGen CA256288
- cosmic curated COSV62326
- ClinVar RCV000013103
- Pathogenic/Likely pathogenic
- Hereditary insensitivity to pain with anhidrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- REVEL 0.89
- CADD 26.20
- PolyPhen-2 0.99
- SIFT 0.04
- ClinVar: Pathogenic/Likely pathogenic (Hereditary insensitivity to pain with anhidrosis)
- EBI: Pathogenic (in CIPA)
- UniProt: Pathogenic (in CIPA)
- Most common in the 1KG:IBS population (allele frequency 0.017)
- Structural context available
- Cited in: Congenital insensitivity to pain with anhidrosis (CIPA) in Israeli-Bedouins: genetic heterogeneity, novel mutations in… (PMID 10861667)
- Cited in: A novel NTRK1 mutation associated with congenital insensitivity to pain with anhidrosis. (PMID 10090906)