S14T (p.Ser14Thr) variant of NTRK1 (P04629)
S14T (p.Ser14Thr) in NTRK1 (P04629) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
S14T (p.Ser14Thr) variant details
- p.Ser14Thr
- gnomAD 1-156842165-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- REVEL 0.98
- MetaLR 0.66
- MetaSVM 0.47
- CADD 29.10
- PolyPhen-2 1.00
- SIFT 0.51
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available