V14F (p.Val14Phe) variant of RASA1 (Ras GTPase-activating protein 1)
V14F (p.Val14Phe) in RASA1 (Ras GTPase-activating protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V14F (p.Val14Phe) variant details
- p.Val14Phe
- rs1012570231
- gnomAD 5-87269271-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- CADD 11.20
- Most common in the HGDP:MANDENKA population (allele frequency 0.05)
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.295
- Literature evidence available