K181N (p.Lys181Asn) variant of SHTN1 (Shootin-1)
K181N (p.Lys181Asn) 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.
K181N (p.Lys181Asn) variant details
- p.Lys181Asn
- ExAC rs766259439
- gnomAD rs766259439
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.20
- MetaLR 0.25
- MetaSVM -0.73
- CADD 23.20
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available