P245S (p.Pro245Ser) variant of IRAG1 (Q9Y6F6)
P245S (p.Pro245Ser) in IRAG1 (Q9Y6F6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
P245S (p.Pro245Ser) variant details
- p.Pro245Ser
- cosmic curated COSV70212
- gnomAD rs1288162057
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.08
- MetaLR 0.03
- MetaSVM -1.06
- CADD 19.40
- PolyPhen-2 0.02
- SIFT 0.40
- Most common in the South Asian population (allele frequency 7e-05)
- Structural context available