S170N (p.Ser170Asn) variant of SHTN1 (Shootin-1)
S170N (p.Ser170Asn) 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.
S170N (p.Ser170Asn) variant details
- p.Ser170Asn
- TOPMed rs1387466448
- gnomAD rs1387466448
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.06
- MetaSVM -1.05
- CADD 19.30
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available