I71V (p.Ile71Val) variant of NTRK3 (NT-3 growth factor receptor)
I71V (p.Ile71Val) in NTRK3 (NT-3 growth factor receptor) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
I71V (p.Ile71Val) variant details
- p.Ile71Val
- rs200923715
- UniProt VAR 074602
- ESP rs200923715
- ExAC rs200923715
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.113
- REVEL 0.06
- CADD 14.90
- PolyPhen-2 0.00
- SIFT 0.86
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Mutations in NTRK3 suggest a novel signaling pathway in human congenital heart disease. (PMID 25196463)