A31V (p.Ala31Val) variant of NTRK1 (P04629)
A31V (p.Ala31Val) in NTRK1 (P04629) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
A31V (p.Ala31Val) variant details
- p.Ala31Val
- rs756222046
- ClinGen CA342929440
- ClinVar RCV001769318
- ExAC rs756222046
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.06
- MetaLR 0.10
- MetaSVM -1.01
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 0.25
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available