N190K (p.Asn190Lys) variant of SHTN1 (Shootin-1)
N190K (p.Asn190Lys) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
N190K (p.Asn190Lys) variant details
- p.Asn190Lys
- gnomAD rs1849681048
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.06
- ESM-1b 0.33
- AlphaMissense 0.19
- MetaLR 0.03
- MetaSVM -0.98
- CADD 16.90
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.2)
- Structural context available