V104A (p.Val104Ala) variant of MED13L (Q71F56)
V104A (p.Val104Ala) in MED13L (Q71F56) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
V104A (p.Val104Ala) variant details
- p.Val104Ala
- gnomAD rs1490084394
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.17
- CADD 21.00
- PolyPhen-2 0.01
- SIFT 0.76
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available