K142N (p.Lys142Asn) variant of SHTN1 (Shootin-1)
K142N (p.Lys142Asn) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
K142N (p.Lys142Asn) variant details
- p.Lys142Asn
- ExAC rs780882487
- gnomAD rs780882487
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.02
- ESM-1b 0.90
- AlphaMissense 0.11
- MetaLR 0.04
- MetaSVM -1.06
- CADD 20.80
- Most common in the HGDP:TU population (allele frequency 0.1)
- Structural context available