S82N (p.Ser82Asn) variant of SHTN1 (Shootin-1)
S82N (p.Ser82Asn) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes structural context.
S82N (p.Ser82Asn) variant details
- p.Ser82Asn
- TOPMed rs1589844915
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.40
- ESM-1b 0.00
- AlphaMissense 0.32
- MetaLR 0.82
- MetaSVM 0.50
- SIFT 0.20
- Structural context available