p.Val62 Ala63insCysVal variant of SLC34A3 (Q8N130)
p.Val62 Ala63insCysVal in SLC34A3 (Q8N130) 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.
p.Val62 Ala63insCysVal variant details
- gnomAD 9-137232580-C-CGC
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.141
- CADD 8.84
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available