I65V (p.Ile65Val) variant of SMAD2 (SMAD family member 2)
I65V (p.Ile65Val) in SMAD2 (SMAD family member 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
I65V (p.Ile65Val) variant details
- p.Ile65Val
- gnomAD rs1242869146
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.22
- CADD 22.60
- PolyPhen-2 0.12
- SIFT 0.11
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available