D137N (p.Asp137Asn) variant of MSI1 (O43347)
D137N (p.Asp137Asn) in MSI1 (O43347) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
D137N (p.Asp137Asn) variant details
- p.Asp137Asn
- gnomAD rs1424495218
- Missense
- Variant Prioritization Score for Impact Estimate 0.484
- REVEL 0.37
- CADD 23.00
- PolyPhen-2 0.15
- SIFT 0.03
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available