S14P (p.Ser14Pro) variant of NTRK1 (P04629)
S14P (p.Ser14Pro) in NTRK1 (P04629) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
S14P (p.Ser14Pro) variant details
- p.Ser14Pro
- rs1654819440
- gnomAD 1-156842165-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- REVEL 0.99
- MetaLR 0.71
- MetaSVM 0.55
- CADD 29.80
- PolyPhen-2 1.00
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- Literature evidence available