K51N (p.Lys51Asn) variant of SHTN1 (Shootin-1)
K51N (p.Lys51Asn) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
K51N (p.Lys51Asn) variant details
- p.Lys51Asn
- TOPMed rs940430892
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.44
- ESM-1b 1.00
- AlphaMissense 0.82
- CADD 25.20
- PolyPhen-2 0.94
- SIFT 0.01
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.1)
- Structural context available