V49A (p.Val49Ala) variant of IL1RAPL1 (Q9NZN1)
V49A (p.Val49Ala) in IL1RAPL1 (Q9NZN1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
V49A (p.Val49Ala) variant details
- p.Val49Ala
- gnomAD X-29283001-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- REVEL 0.48
- CADD 22.60
- PolyPhen-2 0.81
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available