p.Lys37dup variant of RASA1 (Ras GTPase-activating protein 1)
p.Lys37dup in RASA1 (Ras GTPase-activating protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
p.Lys37dup variant details
- rs1753671437
- gnomAD 5-87268558-T-TGAA
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.263
- CADD 17.10
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- RASA1 SH3 domain domainome 1.0: score 0.024
- Literature evidence available