D16Y (p.Asp16Tyr) variant of MED13L (Q71F56)
D16Y (p.Asp16Tyr) in MED13L (Q71F56) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
D16Y (p.Asp16Tyr) variant details
- p.Asp16Tyr
- Ensembl rs867786649
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- REVEL 0.59
- ESM-1b 0.00
- AlphaMissense 0.98
- CADD 25.00
- PolyPhen-2 0.70
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available