S3N (p.Ser3Asn) variant of SHTN1 (Shootin-1)
S3N (p.Ser3Asn) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
S3N (p.Ser3Asn) variant details
- p.Ser3Asn
- Ensembl rs2133548699
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.24
- CADD 23.90
- PolyPhen-2 0.92
- SIFT 0.08
- Population evidence available
- Structural context available