I32N (p.Ile32Asn) variant of RAF1 (P04049)
I32N (p.Ile32Asn) in RAF1 (P04049) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
I32N (p.Ile32Asn) variant details
- p.Ile32Asn
- rs144042562
- gnomAD 14-20891814-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.22
- MetaLR 0.54
- MetaSVM -0.43
- CADD 22.40
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available