T4S (p.Thr4Ser) variant of CHM (P24386)
T4S (p.Thr4Ser) in CHM (P24386) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
T4S (p.Thr4Ser) variant details
- p.Thr4Ser
- ESP rs370525929
- ExAC rs370525929
- TOPMed rs370525929
- gnomAD rs370525929
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- REVEL 0.11
- AlphaMissense 0.06
- MetaLR 0.05
- MetaSVM -1.12
- CADD 10.70
- PolyPhen-2 0.00
- Most common in the African/African-American population (allele frequency 3.3e-05)
- Structural context available