A21V (p.Ala21Val) variant of TECRL (Q5HYJ1)
A21V (p.Ala21Val) in TECRL (Q5HYJ1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
A21V (p.Ala21Val) variant details
- p.Ala21Val
- rs753417723
- NCI-TCGA Cosmic COSV6708
- cosmic curated COSV67088
- ExAC rs753417723
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 5.63
- PolyPhen-2 0.00
- SIFT 0.49
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the HGDP:BALOCHI population (allele frequency 0.022)
- Structural context available