A34D (p.Ala34Asp) variant of PLAT (P00750)
A34D (p.Ala34Asp) in PLAT (P00750) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
A34D (p.Ala34Asp) variant details
- p.Ala34Asp
- rs8178733
- ClinGen CA4731465
- ClinVar RCV000885945
- UniProt VAR 020181
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.50
- CADD 24.40
- PolyPhen-2 0.60
- SIFT 0.01
- ClinVar: Likely benign (not provided)
- EBI: Likely benign (in dbSNP:rs8178733)
- UniProt: Likely benign (in dbSNP:rs8178733)
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available
- Literature evidence available