D92N (p.Asp92Asn) variant of CHM (P24386)
D92N (p.Asp92Asn) in CHM (P24386) 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.
D92N (p.Asp92Asn) variant details
- p.Asp92Asn
- Ensembl rs1931433054
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.06
- MetaLR 0.17
- MetaSVM -0.94
- CADD 17.10
- PolyPhen-2 0.03
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available