S72N (p.Ser72Asn) variant of CHM (P24386)
S72N (p.Ser72Asn) in CHM (P24386) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
S72N (p.Ser72Asn) variant details
- p.Ser72Asn
- gnomAD rs1931441501
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.03
- MetaLR 0.06
- MetaSVM -1.09
- CADD 5.13
- PolyPhen-2 0.01
- SIFT 0.46
- Most common in the Latino/Admixed American population (allele frequency 9.5e-05)
- Structural context available