S21N (p.Ser21Asn) variant of NTRK1 (P04629)
S21N (p.Ser21Asn) in NTRK1 (P04629) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
S21N (p.Ser21Asn) variant details
- p.Ser21Asn
- gnomAD 1-156860996-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.09
- MetaLR 0.09
- MetaSVM -1.02
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 0.55
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available
- Literature evidence available