S87S (p.Ser87Ser) variant of CHAMP1 (Q96JM3)
S87S (p.Ser87Ser) in CHAMP1 (Q96JM3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
S87S (p.Ser87Ser) variant details
- p.Ser87Ser
- rs1555379351
- gnomAD 13-114324103-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.43
- CADD 9.23
- Population evidence available
- Structural context available
- Literature evidence available