S21L (p.Ser21Leu) variant of SMAD2 (SMAD family member 2)
S21L (p.Ser21Leu) in SMAD2 (SMAD family member 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
S21L (p.Ser21Leu) variant details
- p.Ser21Leu
- cosmic curated COSV51057
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.25
- CADD 23.80
- PolyPhen-2 0.01
- SIFT 0.21
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available