P38S (p.Pro38Ser) variant of CHAMP1 (Q96JM3)
P38S (p.Pro38Ser) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
P38S (p.Pro38Ser) variant details
- p.Pro38Ser
- gnomAD 13-114323954-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.52
- REVEL 0.22
- ESM-1b 1.00
- AlphaMissense 0.88
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available