S87P (p.Ser87Pro) variant of CHAMP1 (Q96JM3)
S87P (p.Ser87Pro) in CHAMP1 (Q96JM3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
S87P (p.Ser87Pro) variant details
- p.Ser87Pro
- gnomAD 13-114324101-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.143
- REVEL 0.02
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 22.70
- PolyPhen-2 0.04
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available