K8N (p.Lys8Asn) variant of SHTN1 (Shootin-1)
K8N (p.Lys8Asn) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
K8N (p.Lys8Asn) variant details
- p.Lys8Asn
- ExAC rs757147203
- TOPMed rs757147203
- gnomAD rs757147203
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.50
- CADD 24.10
- PolyPhen-2 0.98
- SIFT 0.36
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available