L22Q (p.Leu22Gln) variant of NTRK1 (P04629)
L22Q (p.Leu22Gln) in NTRK1 (P04629) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Hereditary insensitivity to pain with anhidrosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
L22Q (p.Leu22Gln) variant details
- p.Leu22Gln
- rs748402400
- ClinGen CA1168816
- ClinVar RCV000525243
- ExAC rs748402400
- Likely benign
- Hereditary insensitivity to pain with anhidrosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.35
- MetaLR 0.37
- MetaSVM -0.28
- CADD 24.50
- PolyPhen-2 0.40
- SIFT 0.00
- ClinVar: Likely benign (Hereditary insensitivity to pain with anhidrosis)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available
- Cited in: NTRK1 Congenital Insensitivity to Pain with Anhidrosis. (PMID 20301726)
- Cited in: Congenital Insensitivity to Pain Overview. (PMID 29419974)