I32V (p.Ile32Val) variant of RAF1 (P04049)
I32V (p.Ile32Val) in RAF1 (P04049) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Noonan syndrome and Noonan-related syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
I32V (p.Ile32Val) variant details
- p.Ile32Val
- rs372738063
- ClinGen CA241481
- cosmic curated COSV10586
- ClinVar RCV000159060
- Benign
- Noonan syndrome and Noonan-related syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- AlphaMissense 0.06
- MetaLR 0.21
- MetaSVM -0.90
- PolyPhen-2 0.04
- SIFT 0.20
- ClinVar: Benign (Noonan syndrome and Noonan-related syndrome)
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available