V29I (p.Val29Ile) variant of NRAS (GTPase NRas)
V29I (p.Val29Ile) in NRAS (GTPase NRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of RASopathy; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
V29I (p.Val29Ile) variant details
- p.Val29Ile
- rs772665803
- ClinGen CA1020781
- ClinVar RCV001171586
- ClinVar RCV005093723
- Uncertain significance
- RASopathy; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.34
- CADD 22.80
- PolyPhen-2 0.19
- SIFT 0.60
- ClinVar: Uncertain significance (RASopathy; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available