V14D (p.Val14Asp) variant of RASA1 (Ras GTPase-activating protein 1)
V14D (p.Val14Asp) in RASA1 (Ras GTPase-activating protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V14D (p.Val14Asp) variant details
- p.Val14Asp
- rs1183027269
- gnomAD 5-87269272-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- CADD 8.29
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.295
- Literature evidence available