K77R (p.Lys77Arg) variant of SHTN1 (Shootin-1)
K77R (p.Lys77Arg) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
K77R (p.Lys77Arg) variant details
- p.Lys77Arg
- gnomAD rs1850135235
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.12
- ESM-1b 1.00
- AlphaMissense 0.19
- MetaLR 0.82
- MetaSVM 0.74
- CADD 24.50
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- Structural context available