S15N (p.Ser15Asn) variant of SHTN1 (Shootin-1)
S15N (p.Ser15Asn) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
S15N (p.Ser15Asn) variant details
- p.Ser15Asn
- TOPMed rs1851964600
- gnomAD rs1851964600
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.22
- CADD 21.80
- PolyPhen-2 0.24
- SIFT 0.90
- Most common in the HGDP:YORUBA population (allele frequency 0.048)
- Structural context available