K40R (p.Lys40Arg) variant of SMAD3 (SMAD family member 3)
K40R (p.Lys40Arg) in SMAD3 (SMAD family member 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes structural context.
K40R (p.Lys40Arg) variant details
- p.Lys40Arg
- rs2140188975
- ClinGen CA393202931
- ClinVar RCV002224194
- Ensembl rs2140188975
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- AlphaMissense 0.50
- MetaLR 0.64
- MetaSVM 0.44
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.45
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available