K186N (p.Lys186Asn) variant of SHTN1 (Shootin-1)
K186N (p.Lys186Asn) in SHTN1 (Shootin-1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
K186N (p.Lys186Asn) variant details
- p.Lys186Asn
- rs772929190
- NCI-TCGA Cosmic COSV5338
- cosmic curated COSV53380
- ExAC rs772929190
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.134
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.19
- MetaSVM -0.92
- CADD 14.50
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available