S21C (p.Ser21Cys) variant of NTRK1 (P04629)
S21C (p.Ser21Cys) in NTRK1 (P04629) 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 0.15 / 1. The record also includes population frequency data and structural context.
S21C (p.Ser21Cys) variant details
- p.Ser21Cys
- gnomAD rs1402027172
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.07
- MetaLR 0.17
- MetaSVM -0.88
- CADD 15.90
- PolyPhen-2 0.24
- SIFT 0.20
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available