S79V (p.Ser79Val) variant of IL1RAPL1 (Q9NZN1)
S79V (p.Ser79Val) in IL1RAPL1 (Q9NZN1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
S79V (p.Ser79Val) variant details
- p.Ser79Val
- rs1569276612
- gnomAD X-29283086-CA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.384
- CADD 26.70
- Population evidence available
- Structural context available
- Literature evidence available