T1571A (p.Thr1571Ala) variant of SYNJ1 (O43426)
T1571A (p.Thr1571Ala) in SYNJ1 (O43426) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
T1571A (p.Thr1571Ala) variant details
- p.Thr1571Ala
- rs1266763591
- gnomAD 21-32631018-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- CADD 16.40
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available