Q49R (p.Gln49Arg) variant of SLC34A3 (Q8N130)
Q49R (p.Gln49Arg) in SLC34A3 (Q8N130) is a missense 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.
Q49R (p.Gln49Arg) variant details
- p.Gln49Arg
- gnomAD 9-137232132-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- MetaLR 0.05
- MetaSVM -1.06
- CADD 18.00
- PolyPhen-2 0.05
- SIFT 0.05
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available