M2I (p.Met2Ile) variant of RASA1 (Ras GTPase-activating protein 1)
M2I (p.Met2Ile) in RASA1 (Ras GTPase-activating protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
M2I (p.Met2Ile) variant details
- p.Met2Ile
- gnomAD 5-87268457-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.36
- CADD 23.00
- PolyPhen-2 0.38
- SIFT 0.15
- Population evidence available
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.103
- Literature evidence available