D67N (p.Asp67Asn) variant of CHM (P24386)
D67N (p.Asp67Asn) in CHM (P24386) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
D67N (p.Asp67Asn) variant details
- p.Asp67Asn
- Ensembl rs1931442040
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.08
- MetaLR 0.11
- MetaSVM -0.97
- CADD 15.50
- PolyPhen-2 0.01
- SIFT 0.17
- Most common in the South Asian population (allele frequency 0.00037)
- Structural context available