K36Q (p.Lys36Gln) variant of SMAD3 (SMAD family member 3)
K36Q (p.Lys36Gln) in SMAD3 (SMAD family member 3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
K36Q (p.Lys36Gln) variant details
- p.Lys36Gln
- gnomAD rs1420747523
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- REVEL 0.51
- AlphaMissense 0.98
- MetaLR 0.53
- MetaSVM 0.07
- CADD 25.00
- PolyPhen-2 1.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available